Canonical Allele Identifier: CA411647539

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760896A>C (hg19) ; chr22:g.40364892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364892A>C , CM000684.2:g.40364892A>C	GRCh38
NC_000022.10:g.40760896A>C , CM000684.1:g.40760896A>C	GRCh37
NC_000022.9:g.39090842A>C	NCBI36
NG_007993.1:g.23393A>C
NG_007993.2:g.23393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*598A>C	ENSP00000485462.2:n.*598A>C
ENST00000623287.4:c.*629A>C	ENSP00000485437.1:n.*629A>C
ENST00000623632.4:c.895A>C	ENSP00000485288.2:p.Lys299Gln
ENST00000625194.4:c.1246A>C	ENSP00000485289.2:p.Lys416Gln
ENST00000636433.1:n.1226A>C
ENST00000636714.1:c.1204A>C	ENSP00000490946.1:p.Lys402Gln
ENST00000637666.2:c.1191+527A>C	ENSP00000489696.2:n.1191+527A>C
ENST00000637669.1:c.1204A>C	ENSP00000489728.1:p.Lys402Gln
ENST00000639722.1:c.*900A>C	ENSP00000492828.1:n.*900A>C
ENST00000674592.1:n.2718A>C
ENST00000675622.1:n.4271A>C
ENST00000679609.1:c.*814A>C	ENSP00000506592.1:n.*814A>C
ENST00000679656.1:n.1889A>C
ENST00000679723.1:c.1159A>C	ENSP00000505155.1:p.Lys387Gln
ENST00000679845.1:n.1512A>C
ENST00000679904.1:n.1600A>C
ENST00000680378.1:c.1291A>C	ENSP00000505556.1:p.Lys431Gln
ENST00000680444.1:c.*567A>C	ENSP00000505298.1:n.*567A>C
ENST00000680978.1:c.1204A>C	ENSP00000505244.1:p.Lys402Gln
ENST00000681003.1:n.667A>C
ENST00000681159.1:n.2608A>C
ENST00000216194.11:c.1246A>C	ENSP00000216194.8:p.Lys416Gln
ENST00000342312.9:c.1191+527A>C	ENSP00000341429.6:n.1191+527A>C
ENST00000623063.3:c.1204A>C MANE Select	ENSP00000485525.1:p.Lys402Gln
ENST00000623387.1:n.335A>C
ENST00000625194.3:c.833A>C
NM_000026.2:c.1204A>C	NP_000017.1:p.Lys402Gln
NM_001123378.1:c.1191+527A>C	NP_001116850.1:n.1191+527A>C
XM_011529976.1:c.1204A>C	XP_011528278.1:p.Lys402Gln
XM_011529977.1:c.1204A>C	XP_011528279.1:p.Lys402Gln
XM_011529978.1:c.1191+527A>C	XP_011528280.1:n.1191+527A>C
XM_011529979.1:c.1204A>C	XP_011528281.1:p.Lys402Gln
XM_011529980.1:c.1191+527A>C	XP_011528282.1:n.1191+527A>C
XM_011529981.1:c.739A>C	XP_011528283.1:p.Lys247Gln
XM_011529982.1:c.373A>C	XP_011528284.1:p.Lys125Gln
XR_937824.1:n.1294A>C
XR_937825.1:n.1281+527A>C
NM_000026.3:c.1204A>C	NP_000017.1:p.Lys402Gln
NM_001123378.2:c.1191+527A>C	NP_001116850.1:n.1191+527A>C
NM_001317923.1:c.1012A>C	NP_001304852.1:p.Lys338Gln
NM_001363840.1:c.1204A>C	NP_001350769.1:p.Lys402Gln
NR_134256.1:n.1294A>C
XM_011529977.3:c.1204A>C	XP_011528279.1:p.Lys402Gln
XM_011529980.3:c.1191+527A>C	XP_011528282.1:n.1191+527A>C
XM_017028636.1:c.1159A>C	XP_016884125.1:p.Lys387Gln
XM_017028637.1:c.1159A>C	XP_016884126.1:p.Lys387Gln
XM_017028638.1:c.739A>C	XP_016884127.1:p.Lys247Gln
XM_017028639.2:c.739A>C	XP_016884128.1:p.Lys247Gln
XM_017028640.1:c.373A>C	XP_016884129.1:p.Lys125Gln
XM_024452166.1:c.1146+527A>C	XP_024307934.1:n.1146+527A>C
XR_001755176.2:n.1446A>C
XR_002958670.1:n.1231A>C
XR_937825.3:n.1279+527A>C
NM_000026.4:c.1204A>C MANE Select	NP_000017.1:p.Lys402Gln
NM_001363840.2:c.1204A>C	NP_001350769.1:p.Lys402Gln
NM_001123378.3:c.1191+527A>C	NP_001116850.1:n.1191+527A>C
NM_001317923.2:c.1012A>C	NP_001304852.1:p.Lys338Gln
NM_001363840.3:c.1204A>C	NP_001350769.1:p.Lys402Gln
NR_134256.2:n.1294A>C