Canonical Allele Identifier: CA313117

Gene: ADSL

Linked Data

• ClinVar Variation Id: 1474151
• ClinVar RCV Id: RCV001971049
• dbSNP Id: rs554254383
• ExAC: 22:40760980 G / A
• gnomAD v2: 22-40760980-G-A
• gnomAD v3: 22-40364976-G-A
• gnomAD v4: 22-40364976-G-A
• MyVariant Identifiers: chr22:g.40760980G>A (hg19) ; chr22:g.40364976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364976G>A , CM000684.2:g.40364976G>A	GRCh38
NC_000022.10:g.40760980G>A , CM000684.1:g.40760980G>A	GRCh37
NC_000022.9:g.39090926G>A	NCBI36
NG_007993.1:g.23477G>A
NG_007993.2:g.23477G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.*682G>A	ENSP00000485462.2:n.*682G>A
ENST00000623287.4:c.*713G>A	ENSP00000485437.1:n.*713G>A
ENST00000623632.4:c.979G>A	ENSP00000485288.2:p.Asp327Asn
ENST00000625194.4:c.1330G>A	ENSP00000485289.2:p.Asp444Asn
ENST00000636433.1:n.1310G>A
ENST00000636714.1:c.1288G>A	ENSP00000490946.1:p.Asp430Asn
ENST00000637666.2:c.1191+611G>A	ENSP00000489696.2:n.1191+611G>A
ENST00000637669.1:c.1288G>A	ENSP00000489728.1:p.Asp430Asn
ENST00000639722.1:c.*984G>A	ENSP00000492828.1:n.*984G>A
ENST00000674592.1:n.2802G>A
ENST00000675622.1:n.4355G>A
ENST00000679609.1:c.*898G>A	ENSP00000506592.1:n.*898G>A
ENST00000679656.1:n.1973G>A
ENST00000679723.1:c.1243G>A	ENSP00000505155.1:p.Asp415Asn
ENST00000679845.1:n.1596G>A
ENST00000679904.1:n.1684G>A
ENST00000680378.1:c.1375G>A	ENSP00000505556.1:p.Asp459Asn
ENST00000680444.1:c.*651G>A	ENSP00000505298.1:n.*651G>A
ENST00000680978.1:c.1288G>A	ENSP00000505244.1:p.Asp430Asn
ENST00000681003.1:n.751G>A
ENST00000681159.1:n.2692G>A
ENST00000216194.11:c.1330G>A	ENSP00000216194.8:p.Asp444Asn
ENST00000342312.9:c.1191+611G>A	ENSP00000341429.6:n.1191+611G>A
ENST00000423176.6:c.15G>A
ENST00000623063.3:c.1288G>A MANE Select	ENSP00000485525.1:p.Asp430Asn
ENST00000623387.1:n.419G>A
ENST00000623869.3:c.19G>A	ENSP00000485211.1:p.Asp7Asn
ENST00000624027.1:c.15G>A
ENST00000625194.3:c.917G>A
NM_000026.2:c.1288G>A	NP_000017.1:p.Asp430Asn
NM_001123378.1:c.1191+611G>A	NP_001116850.1:n.1191+611G>A
XM_011529976.1:c.1288G>A	XP_011528278.1:p.Asp430Asn
XM_011529977.1:c.1288G>A	XP_011528279.1:p.Asp430Asn
XM_011529978.1:c.1191+611G>A	XP_011528280.1:n.1191+611G>A
XM_011529979.1:c.1288G>A	XP_011528281.1:p.Asp430Asn
XM_011529980.1:c.1191+611G>A	XP_011528282.1:n.1191+611G>A
XM_011529981.1:c.823G>A	XP_011528283.1:p.Asp275Asn
XM_011529982.1:c.457G>A	XP_011528284.1:p.Asp153Asn
XR_937824.1:n.1378G>A
XR_937825.1:n.1281+611G>A
NM_000026.3:c.1288G>A	NP_000017.1:p.Asp430Asn
NM_001123378.2:c.1191+611G>A	NP_001116850.1:n.1191+611G>A
NM_001317923.1:c.1096G>A	NP_001304852.1:p.Asp366Asn
NM_001363840.1:c.1288G>A	NP_001350769.1:p.Asp430Asn
NR_134256.1:n.1378G>A
XM_011529977.3:c.1288G>A	XP_011528279.1:p.Asp430Asn
XM_011529980.3:c.1191+611G>A	XP_011528282.1:n.1191+611G>A
XM_017028636.1:c.1243G>A	XP_016884125.1:p.Asp415Asn
XM_017028637.1:c.1243G>A	XP_016884126.1:p.Asp415Asn
XM_017028638.1:c.823G>A	XP_016884127.1:p.Asp275Asn
XM_017028639.2:c.823G>A	XP_016884128.1:p.Asp275Asn
XM_017028640.1:c.457G>A	XP_016884129.1:p.Asp153Asn
XM_024452166.1:c.1146+611G>A	XP_024307934.1:n.1146+611G>A
XR_001755176.2:n.1530G>A
XR_002958670.1:n.1315G>A
XR_937825.3:n.1279+611G>A
NM_000026.4:c.1288G>A MANE Select	NP_000017.1:p.Asp430Asn
NM_001363840.2:c.1288G>A	NP_001350769.1:p.Asp430Asn
NM_001123378.3:c.1191+611G>A	NP_001116850.1:n.1191+611G>A
NM_001317923.2:c.1096G>A	NP_001304852.1:p.Asp366Asn
NM_001363840.3:c.1288G>A	NP_001350769.1:p.Asp430Asn
NR_134256.2:n.1378G>A