Canonical Allele Identifier: CA324460879

Gene: ADSL

Linked Data

• dbSNP Id: rs1011687452
• gnomAD v3: 22-40365053-G-A
• gnomAD v4: 22-40365053-G-A
• MyVariant Identifiers: chr22:g.40761057G>A (hg19) ; chr22:g.40365053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365053G>A , CM000684.2:g.40365053G>A	GRCh38
NC_000022.10:g.40761057G>A , CM000684.1:g.40761057G>A	GRCh37
NC_000022.9:g.39091003G>A	NCBI36
NG_007993.1:g.23554G>A
NG_007993.2:g.23554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*759G>A	ENSP00000485462.2:n.*759G>A
ENST00000623287.4:c.*790G>A	ENSP00000485437.1:n.*790G>A
ENST00000623632.4:c.1056G>A	ENSP00000485288.2:p.Gln352=
ENST00000625194.4:c.1407G>A	ENSP00000485289.2:p.Gln469=
ENST00000636433.1:n.1387G>A
ENST00000636714.1:c.1365G>A	ENSP00000490946.1:p.Gln455=
ENST00000637666.2:c.1191+688G>A	ENSP00000489696.2:n.1191+688G>A
ENST00000637669.1:c.1365G>A	ENSP00000489728.1:p.Gln455=
ENST00000639722.1:c.*1061G>A	ENSP00000492828.1:n.*1061G>A
ENST00000674592.1:n.2879G>A
ENST00000675622.1:n.4432G>A
ENST00000679609.1:c.*975G>A	ENSP00000506592.1:n.*975G>A
ENST00000679656.1:n.2050G>A
ENST00000679723.1:c.1320G>A	ENSP00000505155.1:p.Gln440=
ENST00000679845.1:n.1673G>A
ENST00000679904.1:n.1761G>A
ENST00000680378.1:c.1452G>A	ENSP00000505556.1:p.Gln484=
ENST00000680444.1:c.*728G>A	ENSP00000505298.1:n.*728G>A
ENST00000680978.1:c.1365G>A	ENSP00000505244.1:p.Gln455=
ENST00000681003.1:n.828G>A
ENST00000681159.1:n.2769G>A
ENST00000216194.11:c.1407G>A	ENSP00000216194.8:p.Gln469=
ENST00000342312.9:c.1191+688G>A	ENSP00000341429.6:n.1191+688G>A
ENST00000423176.6:c.92G>A
ENST00000498234.2:c.23G>A
ENST00000623063.3:c.1365G>A MANE Select	ENSP00000485525.1:p.Gln455=
ENST00000623387.1:n.496G>A
ENST00000623869.3:c.96G>A	ENSP00000485211.1:p.Gln32=
ENST00000624027.1:c.92G>A
ENST00000625194.3:c.994G>A
NM_000026.2:c.1365G>A	NP_000017.1:p.Gln455=
NM_001123378.1:c.1191+688G>A	NP_001116850.1:n.1191+688G>A
XM_011529976.1:c.1365G>A	XP_011528278.1:p.Gln455=
XM_011529977.1:c.1365G>A	XP_011528279.1:p.Gln455=
XM_011529978.1:c.1191+688G>A	XP_011528280.1:n.1191+688G>A
XM_011529979.1:c.1365G>A	XP_011528281.1:p.Gln455=
XM_011529980.1:c.1191+688G>A	XP_011528282.1:n.1191+688G>A
XM_011529981.1:c.900G>A	XP_011528283.1:p.Gln300=
XM_011529982.1:c.534G>A	XP_011528284.1:p.Gln178=
XR_937824.1:n.1455G>A
XR_937825.1:n.1281+688G>A
NM_000026.3:c.1365G>A	NP_000017.1:p.Gln455=
NM_001123378.2:c.1191+688G>A	NP_001116850.1:n.1191+688G>A
NM_001317923.1:c.1173G>A	NP_001304852.1:p.Gln391=
NM_001363840.1:c.1365G>A	NP_001350769.1:p.Gln455=
NR_134256.1:n.1455G>A
XM_011529977.3:c.1365G>A	XP_011528279.1:p.Gln455=
XM_011529980.3:c.1191+688G>A	XP_011528282.1:n.1191+688G>A
XM_017028636.1:c.1320G>A	XP_016884125.1:p.Gln440=
XM_017028637.1:c.1320G>A	XP_016884126.1:p.Gln440=
XM_017028638.1:c.900G>A	XP_016884127.1:p.Gln300=
XM_017028639.2:c.900G>A	XP_016884128.1:p.Gln300=
XM_017028640.1:c.534G>A	XP_016884129.1:p.Gln178=
XM_024452166.1:c.1146+688G>A	XP_024307934.1:n.1146+688G>A
XR_001755176.2:n.1607G>A
XR_002958670.1:n.1392G>A
XR_937825.3:n.1279+688G>A
NM_000026.4:c.1365G>A MANE Select	NP_000017.1:p.Gln455=
NM_001363840.2:c.1365G>A	NP_001350769.1:p.Gln455=
NM_001123378.3:c.1191+688G>A	NP_001116850.1:n.1191+688G>A
NM_001317923.2:c.1173G>A	NP_001304852.1:p.Gln391=
NM_001363840.3:c.1365G>A	NP_001350769.1:p.Gln455=
NR_134256.2:n.1455G>A