Canonical Allele Identifier: CA411648595

Gene: ADSL

Linked Data

• gnomAD v4: 22-40365028-C-A
• MyVariant Identifiers: chr22:g.40761032C>A (hg19) ; chr22:g.40365028C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365028C>A , CM000684.2:g.40365028C>A	GRCh38
NC_000022.10:g.40761032C>A , CM000684.1:g.40761032C>A	GRCh37
NC_000022.9:g.39090978C>A	NCBI36
NG_007993.1:g.23529C>A
NG_007993.2:g.23529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*734C>A	ENSP00000485462.2:n.*734C>A
ENST00000623287.4:c.*765C>A	ENSP00000485437.1:n.*765C>A
ENST00000623632.4:c.1031C>A	ENSP00000485288.2:p.Ser344Tyr
ENST00000625194.4:c.1382C>A	ENSP00000485289.2:p.Ser461Tyr
ENST00000636433.1:n.1362C>A
ENST00000636714.1:c.1340C>A	ENSP00000490946.1:p.Ser447Tyr
ENST00000637666.2:c.1191+663C>A	ENSP00000489696.2:n.1191+663C>A
ENST00000637669.1:c.1340C>A	ENSP00000489728.1:p.Ser447Tyr
ENST00000639722.1:c.*1036C>A	ENSP00000492828.1:n.*1036C>A
ENST00000674592.1:n.2854C>A
ENST00000675622.1:n.4407C>A
ENST00000679609.1:c.*950C>A	ENSP00000506592.1:n.*950C>A
ENST00000679656.1:n.2025C>A
ENST00000679723.1:c.1295C>A	ENSP00000505155.1:p.Ser432Tyr
ENST00000679845.1:n.1648C>A
ENST00000679904.1:n.1736C>A
ENST00000680378.1:c.1427C>A	ENSP00000505556.1:p.Ser476Tyr
ENST00000680444.1:c.*703C>A	ENSP00000505298.1:n.*703C>A
ENST00000680978.1:c.1340C>A	ENSP00000505244.1:p.Ser447Tyr
ENST00000681003.1:n.803C>A
ENST00000681159.1:n.2744C>A
ENST00000216194.11:c.1382C>A	ENSP00000216194.8:p.Ser461Tyr
ENST00000342312.9:c.1191+663C>A	ENSP00000341429.6:n.1191+663C>A
ENST00000423176.6:c.67C>A
ENST00000623063.3:c.1340C>A MANE Select	ENSP00000485525.1:p.Ser447Tyr
ENST00000623387.1:n.471C>A
ENST00000623869.3:c.71C>A	ENSP00000485211.1:p.Ser24Tyr
ENST00000624027.1:c.67C>A
ENST00000625194.3:c.969C>A
NM_000026.2:c.1340C>A	NP_000017.1:p.Ser447Tyr
NM_001123378.1:c.1191+663C>A	NP_001116850.1:n.1191+663C>A
XM_011529976.1:c.1340C>A	XP_011528278.1:p.Ser447Tyr
XM_011529977.1:c.1340C>A	XP_011528279.1:p.Ser447Tyr
XM_011529978.1:c.1191+663C>A	XP_011528280.1:n.1191+663C>A
XM_011529979.1:c.1340C>A	XP_011528281.1:p.Ser447Tyr
XM_011529980.1:c.1191+663C>A	XP_011528282.1:n.1191+663C>A
XM_011529981.1:c.875C>A	XP_011528283.1:p.Ser292Tyr
XM_011529982.1:c.509C>A	XP_011528284.1:p.Ser170Tyr
XR_937824.1:n.1430C>A
XR_937825.1:n.1281+663C>A
NM_000026.3:c.1340C>A	NP_000017.1:p.Ser447Tyr
NM_001123378.2:c.1191+663C>A	NP_001116850.1:n.1191+663C>A
NM_001317923.1:c.1148C>A	NP_001304852.1:p.Ser383Tyr
NM_001363840.1:c.1340C>A	NP_001350769.1:p.Ser447Tyr
NR_134256.1:n.1430C>A
XM_011529977.3:c.1340C>A	XP_011528279.1:p.Ser447Tyr
XM_011529980.3:c.1191+663C>A	XP_011528282.1:n.1191+663C>A
XM_017028636.1:c.1295C>A	XP_016884125.1:p.Ser432Tyr
XM_017028637.1:c.1295C>A	XP_016884126.1:p.Ser432Tyr
XM_017028638.1:c.875C>A	XP_016884127.1:p.Ser292Tyr
XM_017028639.2:c.875C>A	XP_016884128.1:p.Ser292Tyr
XM_017028640.1:c.509C>A	XP_016884129.1:p.Ser170Tyr
XM_024452166.1:c.1146+663C>A	XP_024307934.1:n.1146+663C>A
XR_001755176.2:n.1582C>A
XR_002958670.1:n.1367C>A
XR_937825.3:n.1279+663C>A
NM_000026.4:c.1340C>A MANE Select	NP_000017.1:p.Ser447Tyr
NM_001363840.2:c.1340C>A	NP_001350769.1:p.Ser447Tyr
NM_001123378.3:c.1191+663C>A	NP_001116850.1:n.1191+663C>A
NM_001317923.2:c.1148C>A	NP_001304852.1:p.Ser383Tyr
NM_001363840.3:c.1340C>A	NP_001350769.1:p.Ser447Tyr
NR_134256.2:n.1430C>A