Canonical Allele Identifier: CA411648393

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761005C>T (hg19) ; chr22:g.40365001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365001C>T , CM000684.2:g.40365001C>T	GRCh38
NC_000022.10:g.40761005C>T , CM000684.1:g.40761005C>T	GRCh37
NC_000022.9:g.39090951C>T	NCBI36
NG_007993.1:g.23502C>T
NG_007993.2:g.23502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*707C>T	ENSP00000485462.2:n.*707C>T
ENST00000623287.4:c.*738C>T	ENSP00000485437.1:n.*738C>T
ENST00000623632.4:c.1004C>T	ENSP00000485288.2:p.Ser335Phe
ENST00000625194.4:c.1355C>T	ENSP00000485289.2:p.Ser452Phe
ENST00000636433.1:n.1335C>T
ENST00000636714.1:c.1313C>T	ENSP00000490946.1:p.Ser438Phe
ENST00000637666.2:c.1191+636C>T	ENSP00000489696.2:n.1191+636C>T
ENST00000637669.1:c.1313C>T	ENSP00000489728.1:p.Ser438Phe
ENST00000639722.1:c.*1009C>T	ENSP00000492828.1:n.*1009C>T
ENST00000674592.1:n.2827C>T
ENST00000675622.1:n.4380C>T
ENST00000679609.1:c.*923C>T	ENSP00000506592.1:n.*923C>T
ENST00000679656.1:n.1998C>T
ENST00000679723.1:c.1268C>T	ENSP00000505155.1:p.Ser423Phe
ENST00000679845.1:n.1621C>T
ENST00000679904.1:n.1709C>T
ENST00000680378.1:c.1400C>T	ENSP00000505556.1:p.Ser467Phe
ENST00000680444.1:c.*676C>T	ENSP00000505298.1:n.*676C>T
ENST00000680978.1:c.1313C>T	ENSP00000505244.1:p.Ser438Phe
ENST00000681003.1:n.776C>T
ENST00000681159.1:n.2717C>T
ENST00000216194.11:c.1355C>T	ENSP00000216194.8:p.Ser452Phe
ENST00000342312.9:c.1191+636C>T	ENSP00000341429.6:n.1191+636C>T
ENST00000423176.6:c.40C>T
ENST00000623063.3:c.1313C>T MANE Select	ENSP00000485525.1:p.Ser438Phe
ENST00000623387.1:n.444C>T
ENST00000623869.3:c.44C>T	ENSP00000485211.1:p.Ser15Phe
ENST00000624027.1:c.40C>T
ENST00000625194.3:c.942C>T
NM_000026.2:c.1313C>T	NP_000017.1:p.Ser438Phe
NM_001123378.1:c.1191+636C>T	NP_001116850.1:n.1191+636C>T
XM_011529976.1:c.1313C>T	XP_011528278.1:p.Ser438Phe
XM_011529977.1:c.1313C>T	XP_011528279.1:p.Ser438Phe
XM_011529978.1:c.1191+636C>T	XP_011528280.1:n.1191+636C>T
XM_011529979.1:c.1313C>T	XP_011528281.1:p.Ser438Phe
XM_011529980.1:c.1191+636C>T	XP_011528282.1:n.1191+636C>T
XM_011529981.1:c.848C>T	XP_011528283.1:p.Ser283Phe
XM_011529982.1:c.482C>T	XP_011528284.1:p.Ser161Phe
XR_937824.1:n.1403C>T
XR_937825.1:n.1281+636C>T
NM_000026.3:c.1313C>T	NP_000017.1:p.Ser438Phe
NM_001123378.2:c.1191+636C>T	NP_001116850.1:n.1191+636C>T
NM_001317923.1:c.1121C>T	NP_001304852.1:p.Ser374Phe
NM_001363840.1:c.1313C>T	NP_001350769.1:p.Ser438Phe
NR_134256.1:n.1403C>T
XM_011529977.3:c.1313C>T	XP_011528279.1:p.Ser438Phe
XM_011529980.3:c.1191+636C>T	XP_011528282.1:n.1191+636C>T
XM_017028636.1:c.1268C>T	XP_016884125.1:p.Ser423Phe
XM_017028637.1:c.1268C>T	XP_016884126.1:p.Ser423Phe
XM_017028638.1:c.848C>T	XP_016884127.1:p.Ser283Phe
XM_017028639.2:c.848C>T	XP_016884128.1:p.Ser283Phe
XM_017028640.1:c.482C>T	XP_016884129.1:p.Ser161Phe
XM_024452166.1:c.1146+636C>T	XP_024307934.1:n.1146+636C>T
XR_001755176.2:n.1555C>T
XR_002958670.1:n.1340C>T
XR_937825.3:n.1279+636C>T
NM_000026.4:c.1313C>T MANE Select	NP_000017.1:p.Ser438Phe
NM_001363840.2:c.1313C>T	NP_001350769.1:p.Ser438Phe
NM_001123378.3:c.1191+636C>T	NP_001116850.1:n.1191+636C>T
NM_001317923.2:c.1121C>T	NP_001304852.1:p.Ser374Phe
NM_001363840.3:c.1313C>T	NP_001350769.1:p.Ser438Phe
NR_134256.2:n.1403C>T