Canonical Allele Identifier: CA344378891

Gene: NFASC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204997305C>T , CM000663.2:g.204997305C>T	GRCh38
NC_000001.10:g.204966433C>T , CM000663.1:g.204966433C>T	GRCh37
NC_000001.9:g.203233056C>T	NCBI36
NG_029938.1:g.173652C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001005388.3:c.2918C>T MANE Select	NP_001005388.2:p.Thr973Ile
ENST00000339876.11:c.2918C>T MANE Select	ENSP00000344786.6:p.Thr973Ile
NM_001160331.2:c.3136+5999C>T MANE Plus Clinical	NP_001153803.1:n.3136+5999C>T
ENST00000539706.6:c.3136+5999C>T MANE Plus Clinical	ENSP00000438614.2:n.3136+5999C>T
NM_001005388.2:c.2918C>T	NP_001005388.2:p.Thr973Ile
NM_001160331.1:c.3136+5999C>T	NP_001153803.1:n.3136+5999C>T
NM_001160332.1:c.3091+5999C>T	NP_001153804.1:n.3091+5999C>T
NM_001160332.2:c.3091+5999C>T	NP_001153804.1:n.3091+5999C>T
NM_001365986.1:c.2755+8499C>T	NP_001352915.1:n.2755+8499C>T
NM_001378329.1:c.3239C>T	NP_001365258.1:p.Thr1080Ile
NM_015090.3:c.3076+8499C>T	NP_055905.2:n.3076+8499C>T
NM_015090.4:c.3076+8499C>T	NP_055905.2:n.3076+8499C>T
ENST00000339876.10:c.2918C>T	ENSP00000344786.6:p.Thr973Ile
ENST00000360049.8:c.3076+8499C>T	ENSP00000353154.4:n.3076+8499C>T
ENST00000367173.7:c.2691+5999C>T
ENST00000401399.5:c.2918C>T	ENSP00000385637.1:p.Thr973Ile
ENST00000404076.5:c.3040+5999C>T	ENSP00000385676.1:n.3040+5999C>T
ENST00000404907.5:c.3091+5999C>T	ENSP00000384061.1:n.3091+5999C>T
ENST00000404977.6:n.3549+8499C>T
ENST00000413225.5:c.159-3865C>T
ENST00000425360.5:c.462+8499C>T
ENST00000430393.5:c.3064+5999C>T	ENSP00000415031.1:n.3064+5999C>T
ENST00000430393.6:c.3136+5999C>T	ENSP00000415031.2:n.3136+5999C>T
ENST00000430393.7:c.3091+5999C>T	ENSP00000415031.3:n.3091+5999C>T
ENST00000447819.1:c.122C>T	ENSP00000416891.1:p.Thr41Ile
ENST00000492085.1:n.396C>T
ENST00000495396.5:n.1041-5291C>T
ENST00000504476.5:c.*1767+8499C>T	ENSP00000422524.1:n.*1767+8499C>T
ENST00000513543.5:c.3076+8499C>T	ENSP00000425908.1:n.3076+8499C>T
ENST00000513543.6:c.3076+8499C>T	ENSP00000425908.1:n.3076+8499C>T
ENST00000539706.5:c.3091+5999C>T	ENSP00000438614.1:n.3091+5999C>T
XM_005244989.3:c.3367+5999C>T	XP_005245046.2:n.3367+5999C>T
XM_005244991.3:c.3322+5999C>T	XP_005245048.2:n.3322+5999C>T
XM_005244992.3:c.3307+8499C>T	XP_005245049.2:n.3307+8499C>T
XM_005244992.4:c.3307+8499C>T	XP_005245049.2:n.3307+8499C>T
XM_005244993.3:c.3271+5999C>T	XP_005245050.2:n.3271+5999C>T
XM_011509311.1:c.3275C>T	XP_011507613.1:p.Thr1092Ile
XM_011509311.2:c.3722C>T	XP_011507613.2:p.Thr1241Ile
XM_011509312.1:c.3503C>T	XP_011507614.1:p.Thr1168Ile
XM_011509313.1:c.3245C>T	XP_011507615.1:p.Thr1082Ile
XM_011509314.1:c.3452C>T	XP_011507616.1:p.Thr1151Ile
XM_011509315.1:c.3194C>T	XP_011507617.1:p.Thr1065Ile
XM_011509316.1:c.3290C>T	XP_011507618.1:p.Thr1097Ile
XM_011509317.1:c.3290C>T	XP_011507619.1:p.Thr1097Ile
XM_011509318.1:c.3578C>T	XP_011507620.1:p.Thr1193Ile
XM_011509318.2:c.3578C>T	XP_011507620.1:p.Thr1193Ile
XM_011509319.1:c.3239C>T	XP_011507621.1:p.Thr1080Ile
XM_011509320.1:c.3527C>T	XP_011507622.1:p.Thr1176Ile
XM_011509320.2:c.3527C>T	XP_011507622.1:p.Thr1176Ile
XM_011509321.1:c.3155-3865C>T	XP_011507623.1:n.3155-3865C>T
XM_011509321.2:c.3602-3865C>T	XP_011507623.2:n.3602-3865C>T
XM_011509322.1:c.3290C>T	XP_011507624.1:p.Thr1097Ile
XM_011509322.2:c.3737C>T	XP_011507624.2:p.Thr1246Ile
XM_011509323.1:c.2969C>T	XP_011507625.1:p.Thr990Ile
XM_011509323.2:c.3416C>T	XP_011507625.2:p.Thr1139Ile
XM_011509324.1:c.3154+5999C>T	XP_011507626.1:n.3154+5999C>T
XM_011509325.1:c.3139+8499C>T	XP_011507627.1:n.3139+8499C>T
XM_011509325.2:c.3586+8499C>T	XP_011507627.2:n.3586+8499C>T
XM_011509326.1:c.2833+5999C>T	XP_011507628.1:n.2833+5999C>T
XM_011509326.2:c.3280+5999C>T	XP_011507628.2:n.3280+5999C>T
XM_011509327.1:c.2818+8499C>T	XP_011507629.1:n.2818+8499C>T
XM_011509327.2:c.3265+8499C>T	XP_011507629.2:n.3265+8499C>T
XM_011509328.1:c.2782+5999C>T	XP_011507630.1:n.2782+5999C>T
XM_011509328.2:c.3229+5999C>T	XP_011507630.2:n.3229+5999C>T
XM_017000733.1:c.3458C>T	XP_016856222.1:p.Thr1153Ile
XM_017000734.1:c.3407C>T	XP_016856223.1:p.Thr1136Ile
XM_017000738.1:c.3397+5999C>T	XP_016856227.1:n.3397+5999C>T
XM_017000739.1:c.3382+8499C>T	XP_016856228.1:n.3382+8499C>T
XM_017000740.1:c.3061+8499C>T	XP_016856229.1:n.3061+8499C>T
XM_017000741.1:c.2129C>T	XP_016856230.1:p.Thr710Ile
XM_017000742.2:c.1808C>T	XP_016856231.1:p.Thr603Ile
XM_024454283.1:c.3737C>T	XP_024310051.1:p.Thr1246Ile
XM_024454285.1:c.3692C>T	XP_024310053.1:p.Thr1231Ile
XM_024454288.1:c.3686C>T	XP_024310056.1:p.Thr1229Ile
XM_024454292.1:c.3641C>T	XP_024310060.1:p.Thr1214Ile
XM_024454296.1:c.3365C>T	XP_024310064.1:p.Thr1122Ile
XM_024454297.1:c.3601+5999C>T	XP_024310065.1:n.3601+5999C>T
XM_024454299.1:c.3556+5999C>T	XP_024310067.1:n.3556+5999C>T
XM_024454300.1:c.2918C>T	XP_024310068.1:p.Thr973Ile
XR_921759.1:n.3380C>T