Canonical Allele Identifier: CA344388095
Community Standard Title: NM_001005388.3(NFASC):c.3365T>A (p.Val1122Glu)
Gene: NFASC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205009632T>A , CM000663.2:g.205009632T>A GRCh38
NC_000001.10:g.204978760T>A , CM000663.1:g.204978760T>A GRCh37
NC_000001.9:g.203245383T>A NCBI36
NG_029938.1:g.185979T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001005388.3:c.3365T>A MANE Select NP_001005388.2:p.Val1122Glu
ENST00000339876.11:c.3365T>A MANE Select ENSP00000344786.6:p.Val1122Glu
NM_001160331.2:c.3212T>A MANE Plus Clinical NP_001153803.1:p.Val1071Glu
ENST00000539706.6:c.3212T>A MANE Plus Clinical ENSP00000438614.2:p.Val1071Glu
NM_001005388.2:c.3365T>A NP_001005388.2:p.Val1122Glu
NM_001160331.1:c.3212T>A NP_001153803.1:p.Val1071Glu
NM_001160332.1:c.3167T>A NP_001153804.1:p.Val1056Glu
NM_001160332.2:c.3167T>A NP_001153804.1:p.Val1056Glu
NM_001365986.1:c.2831T>A NP_001352915.1:p.Val944Glu
NM_001378329.1:c.3686T>A NP_001365258.1:p.Val1229Glu
NM_015090.3:c.3152T>A NP_055905.2:p.Val1051Glu
NM_015090.4:c.3152T>A NP_055905.2:p.Val1051Glu
ENST00000339876.10:c.3365T>A ENSP00000344786.6:p.Val1122Glu
ENST00000360049.8:c.3152T>A ENSP00000353154.4:p.Val1051Glu
ENST00000367173.7:c.2767T>A
ENST00000401399.5:c.3365T>A ENSP00000385637.1:p.Val1122Glu
ENST00000404076.5:c.3116T>A ENSP00000385676.1:p.Val1039Glu
ENST00000404907.5:c.3167T>A ENSP00000384061.1:p.Val1056Glu
ENST00000404977.6:n.3625T>A
ENST00000413225.5:c.504T>A
ENST00000425360.5:c.538T>A
ENST00000430393.5:c.3140T>A ENSP00000415031.1:p.Val1047Glu
ENST00000430393.6:c.3212T>A ENSP00000415031.2:p.Val1071Glu
ENST00000430393.7:c.3167T>A ENSP00000415031.3:p.Val1056Glu
ENST00000447819.1:c.299T>A ENSP00000416891.1:p.Val100Glu
ENST00000495396.5:n.1269T>A
ENST00000503221.1:n.1188T>A
ENST00000504476.5:c.*1843T>A ENSP00000422524.1:n.*1843T>A
ENST00000513543.5:c.3152T>A ENSP00000425908.1:p.Val1051Glu
ENST00000513543.6:c.3152T>A ENSP00000425908.1:p.Val1051Glu
ENST00000539706.5:c.3167T>A ENSP00000438614.1:p.Val1056Glu
XM_005244989.3:c.3443T>A XP_005245046.2:p.Val1148Glu
XM_005244991.3:c.3398T>A XP_005245048.2:p.Val1133Glu
XM_005244992.3:c.3383T>A XP_005245049.2:p.Val1128Glu
XM_005244992.4:c.3383T>A XP_005245049.2:p.Val1128Glu
XM_005244993.3:c.3347T>A XP_005245050.2:p.Val1116Glu
XM_011509311.1:c.3722T>A XP_011507613.1:p.Val1241Glu
XM_011509311.2:c.4169T>A XP_011507613.2:p.Val1390Glu
XM_011509312.1:c.3950T>A XP_011507614.1:p.Val1317Glu
XM_011509313.1:c.3692T>A XP_011507615.1:p.Val1231Glu
XM_011509314.1:c.3899T>A XP_011507616.1:p.Val1300Glu
XM_011509315.1:c.3641T>A XP_011507617.1:p.Val1214Glu
XM_011509316.1:c.3737T>A XP_011507618.1:p.Val1246Glu
XM_011509317.1:c.3584T>A XP_011507619.1:p.Val1195Glu
XM_011509318.1:c.4025T>A XP_011507620.1:p.Val1342Glu
XM_011509318.2:c.4025T>A XP_011507620.1:p.Val1342Glu
XM_011509319.1:c.3686T>A XP_011507621.1:p.Val1229Glu
XM_011509320.1:c.3974T>A XP_011507622.1:p.Val1325Glu
XM_011509320.2:c.3974T>A XP_011507622.1:p.Val1325Glu
XM_011509321.1:c.3500T>A XP_011507623.1:p.Val1167Glu
XM_011509321.2:c.3947T>A XP_011507623.2:p.Val1316Glu
XM_011509322.1:c.3467T>A XP_011507624.1:p.Val1156Glu
XM_011509322.2:c.3914T>A XP_011507624.2:p.Val1305Glu
XM_011509323.1:c.3416T>A XP_011507625.1:p.Val1139Glu
XM_011509323.2:c.3863T>A XP_011507625.2:p.Val1288Glu
XM_011509324.1:c.3230T>A XP_011507626.1:p.Val1077Glu
XM_011509325.1:c.3215T>A XP_011507627.1:p.Val1072Glu
XM_011509325.2:c.3662T>A XP_011507627.2:p.Val1221Glu
XM_011509326.1:c.2909T>A XP_011507628.1:p.Val970Glu
XM_011509326.2:c.3356T>A XP_011507628.2:p.Val1119Glu
XM_011509327.1:c.2894T>A XP_011507629.1:p.Val965Glu
XM_011509327.2:c.3341T>A XP_011507629.2:p.Val1114Glu
XM_011509328.1:c.2858T>A XP_011507630.1:p.Val953Glu
XM_011509328.2:c.3305T>A XP_011507630.2:p.Val1102Glu
XM_017000733.1:c.3905T>A XP_016856222.1:p.Val1302Glu
XM_017000734.1:c.3854T>A XP_016856223.1:p.Val1285Glu
XM_017000738.1:c.3473T>A XP_016856227.1:p.Val1158Glu
XM_017000739.1:c.3458T>A XP_016856228.1:p.Val1153Glu
XM_017000740.1:c.3137T>A XP_016856229.1:p.Val1046Glu
XM_017000741.1:c.2576T>A XP_016856230.1:p.Val859Glu
XM_017000742.2:c.2255T>A XP_016856231.1:p.Val752Glu
XM_024454283.1:c.4184T>A XP_024310051.1:p.Val1395Glu
XM_024454285.1:c.4139T>A XP_024310053.1:p.Val1380Glu
XM_024454288.1:c.4133T>A XP_024310056.1:p.Val1378Glu
XM_024454292.1:c.4088T>A XP_024310060.1:p.Val1363Glu
XM_024454296.1:c.3812T>A XP_024310064.1:p.Val1271Glu
XM_024454297.1:c.3677T>A XP_024310065.1:p.Val1226Glu
XM_024454299.1:c.3632T>A XP_024310067.1:p.Val1211Glu
XM_024454300.1:c.3365T>A XP_024310068.1:p.Val1122Glu