Canonical Allele Identifier: CA324460884

Gene: ADSL

Linked Data

• ClinVar Variation Id: 845069
• ClinVar RCV Id: RCV001048058
• dbSNP Id: rs1011687452
• gnomAD v2: 22-40761057-G-T
• gnomAD v3: 22-40365053-G-T
• gnomAD v4: 22-40365053-G-T
• MyVariant Identifiers: chr22:g.40761057G>T (hg19) ; chr22:g.40365053G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*759G>T	ENSP00000485462.2:n.*759G>T
ENST00000623287.4:c.*790G>T	ENSP00000485437.1:n.*790G>T
ENST00000623632.4:c.1056G>T	ENSP00000485288.2:p.Gln352His
ENST00000625194.4:c.1407G>T	ENSP00000485289.2:p.Gln469His
ENST00000636433.1:n.1387G>T
ENST00000636714.1:c.1365G>T	ENSP00000490946.1:p.Gln455His
ENST00000637666.2:c.1191+688G>T	ENSP00000489696.2:n.1191+688G>T
ENST00000637669.1:c.1365G>T	ENSP00000489728.1:p.Gln455His
ENST00000639722.1:c.*1061G>T	ENSP00000492828.1:n.*1061G>T
ENST00000674592.1:n.2879G>T
ENST00000675622.1:n.4432G>T
ENST00000679609.1:c.*975G>T	ENSP00000506592.1:n.*975G>T
ENST00000679656.1:n.2050G>T
ENST00000679723.1:c.1320G>T	ENSP00000505155.1:p.Gln440His
ENST00000679845.1:n.1673G>T
ENST00000679904.1:n.1761G>T
ENST00000680378.1:c.1452G>T	ENSP00000505556.1:p.Gln484His
ENST00000680444.1:c.*728G>T	ENSP00000505298.1:n.*728G>T
ENST00000680978.1:c.1365G>T	ENSP00000505244.1:p.Gln455His
ENST00000681003.1:n.828G>T
ENST00000681159.1:n.2769G>T
ENST00000216194.11:c.1407G>T	ENSP00000216194.8:p.Gln469His
ENST00000342312.9:c.1191+688G>T	ENSP00000341429.6:n.1191+688G>T
ENST00000423176.6:c.92G>T
ENST00000498234.2:c.23G>T
ENST00000623063.3:c.1365G>T MANE Select	ENSP00000485525.1:p.Gln455His
ENST00000623387.1:n.496G>T
ENST00000623869.3:c.96G>T	ENSP00000485211.1:p.Gln32His
ENST00000624027.1:c.92G>T
ENST00000625194.3:c.994G>T
NM_000026.2:c.1365G>T	NP_000017.1:p.Gln455His
NM_001123378.1:c.1191+688G>T	NP_001116850.1:n.1191+688G>T
XM_011529976.1:c.1365G>T	XP_011528278.1:p.Gln455His
XM_011529977.1:c.1365G>T	XP_011528279.1:p.Gln455His
XM_011529978.1:c.1191+688G>T	XP_011528280.1:n.1191+688G>T
XM_011529979.1:c.1365G>T	XP_011528281.1:p.Gln455His
XM_011529980.1:c.1191+688G>T	XP_011528282.1:n.1191+688G>T
XM_011529981.1:c.900G>T	XP_011528283.1:p.Gln300His
XM_011529982.1:c.534G>T	XP_011528284.1:p.Gln178His
XR_937824.1:n.1455G>T
XR_937825.1:n.1281+688G>T
NM_000026.3:c.1365G>T	NP_000017.1:p.Gln455His
NM_001123378.2:c.1191+688G>T	NP_001116850.1:n.1191+688G>T
NM_001317923.1:c.1173G>T	NP_001304852.1:p.Gln391His
NM_001363840.1:c.1365G>T	NP_001350769.1:p.Gln455His
NR_134256.1:n.1455G>T
XM_011529977.3:c.1365G>T	XP_011528279.1:p.Gln455His
XM_011529980.3:c.1191+688G>T	XP_011528282.1:n.1191+688G>T
XM_017028636.1:c.1320G>T	XP_016884125.1:p.Gln440His
XM_017028637.1:c.1320G>T	XP_016884126.1:p.Gln440His
XM_017028638.1:c.900G>T	XP_016884127.1:p.Gln300His
XM_017028639.2:c.900G>T	XP_016884128.1:p.Gln300His
XM_017028640.1:c.534G>T	XP_016884129.1:p.Gln178His
XM_024452166.1:c.1146+688G>T	XP_024307934.1:n.1146+688G>T
XR_001755176.2:n.1607G>T
XR_002958670.1:n.1392G>T
XR_937825.3:n.1279+688G>T
NM_000026.4:c.1365G>T MANE Select	NP_000017.1:p.Gln455His
NM_001363840.2:c.1365G>T	NP_001350769.1:p.Gln455His
NM_001123378.3:c.1191+688G>T	NP_001116850.1:n.1191+688G>T
NM_001317923.2:c.1173G>T	NP_001304852.1:p.Gln391His
NM_001363840.3:c.1365G>T	NP_001350769.1:p.Gln455His
NR_134256.2:n.1455G>T