Canonical Allele Identifier: CA411647929

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760941G>C (hg19) ; chr22:g.40364937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364937G>C , CM000684.2:g.40364937G>C	GRCh38
NC_000022.10:g.40760941G>C , CM000684.1:g.40760941G>C	GRCh37
NC_000022.9:g.39090887G>C	NCBI36
NG_007993.1:g.23438G>C
NG_007993.2:g.23438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*643G>C	ENSP00000485462.2:n.*643G>C
ENST00000623287.4:c.*674G>C	ENSP00000485437.1:n.*674G>C
ENST00000623632.4:c.940G>C	ENSP00000485288.2:p.Glu314Gln
ENST00000625194.4:c.1291G>C	ENSP00000485289.2:p.Glu431Gln
ENST00000636433.1:n.1271G>C
ENST00000636714.1:c.1249G>C	ENSP00000490946.1:p.Glu417Gln
ENST00000637666.2:c.1191+572G>C	ENSP00000489696.2:n.1191+572G>C
ENST00000637669.1:c.1249G>C	ENSP00000489728.1:p.Glu417Gln
ENST00000639722.1:c.*945G>C	ENSP00000492828.1:n.*945G>C
ENST00000674592.1:n.2763G>C
ENST00000675622.1:n.4316G>C
ENST00000679609.1:c.*859G>C	ENSP00000506592.1:n.*859G>C
ENST00000679656.1:n.1934G>C
ENST00000679723.1:c.1204G>C	ENSP00000505155.1:p.Glu402Gln
ENST00000679845.1:n.1557G>C
ENST00000679904.1:n.1645G>C
ENST00000680378.1:c.1336G>C	ENSP00000505556.1:p.Glu446Gln
ENST00000680444.1:c.*612G>C	ENSP00000505298.1:n.*612G>C
ENST00000680978.1:c.1249G>C	ENSP00000505244.1:p.Glu417Gln
ENST00000681003.1:n.712G>C
ENST00000681159.1:n.2653G>C
ENST00000216194.11:c.1291G>C	ENSP00000216194.8:p.Glu431Gln
ENST00000342312.9:c.1191+572G>C	ENSP00000341429.6:n.1191+572G>C
ENST00000623063.3:c.1249G>C MANE Select	ENSP00000485525.1:p.Glu417Gln
ENST00000623387.1:n.380G>C
ENST00000625194.3:c.878G>C
NM_000026.2:c.1249G>C	NP_000017.1:p.Glu417Gln
NM_001123378.1:c.1191+572G>C	NP_001116850.1:n.1191+572G>C
XM_011529976.1:c.1249G>C	XP_011528278.1:p.Glu417Gln
XM_011529977.1:c.1249G>C	XP_011528279.1:p.Glu417Gln
XM_011529978.1:c.1191+572G>C	XP_011528280.1:n.1191+572G>C
XM_011529979.1:c.1249G>C	XP_011528281.1:p.Glu417Gln
XM_011529980.1:c.1191+572G>C	XP_011528282.1:n.1191+572G>C
XM_011529981.1:c.784G>C	XP_011528283.1:p.Glu262Gln
XM_011529982.1:c.418G>C	XP_011528284.1:p.Glu140Gln
XR_937824.1:n.1339G>C
XR_937825.1:n.1281+572G>C
NM_000026.3:c.1249G>C	NP_000017.1:p.Glu417Gln
NM_001123378.2:c.1191+572G>C	NP_001116850.1:n.1191+572G>C
NM_001317923.1:c.1057G>C	NP_001304852.1:p.Glu353Gln
NM_001363840.1:c.1249G>C	NP_001350769.1:p.Glu417Gln
NR_134256.1:n.1339G>C
XM_011529977.3:c.1249G>C	XP_011528279.1:p.Glu417Gln
XM_011529980.3:c.1191+572G>C	XP_011528282.1:n.1191+572G>C
XM_017028636.1:c.1204G>C	XP_016884125.1:p.Glu402Gln
XM_017028637.1:c.1204G>C	XP_016884126.1:p.Glu402Gln
XM_017028638.1:c.784G>C	XP_016884127.1:p.Glu262Gln
XM_017028639.2:c.784G>C	XP_016884128.1:p.Glu262Gln
XM_017028640.1:c.418G>C	XP_016884129.1:p.Glu140Gln
XM_024452166.1:c.1146+572G>C	XP_024307934.1:n.1146+572G>C
XR_001755176.2:n.1491G>C
XR_002958670.1:n.1276G>C
XR_937825.3:n.1279+572G>C
NM_000026.4:c.1249G>C MANE Select	NP_000017.1:p.Glu417Gln
NM_001363840.2:c.1249G>C	NP_001350769.1:p.Glu417Gln
NM_001123378.3:c.1191+572G>C	NP_001116850.1:n.1191+572G>C
NM_001317923.2:c.1057G>C	NP_001304852.1:p.Glu353Gln
NM_001363840.3:c.1249G>C	NP_001350769.1:p.Glu417Gln
NR_134256.2:n.1339G>C