Canonical Allele Identifier: CA411648450

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40761014A>G (hg19) ; chr22:g.40365010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365010A>G , CM000684.2:g.40365010A>G	GRCh38
NC_000022.10:g.40761014A>G , CM000684.1:g.40761014A>G	GRCh37
NC_000022.9:g.39090960A>G	NCBI36
NG_007993.1:g.23511A>G
NG_007993.2:g.23511A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*716A>G	ENSP00000485462.2:n.*716A>G
ENST00000623287.4:c.*747A>G	ENSP00000485437.1:n.*747A>G
ENST00000623632.4:c.1013A>G	ENSP00000485288.2:p.Asp338Gly
ENST00000625194.4:c.1364A>G	ENSP00000485289.2:p.Asp455Gly
ENST00000636433.1:n.1344A>G
ENST00000636714.1:c.1322A>G	ENSP00000490946.1:p.Asp441Gly
ENST00000637666.2:c.1191+645A>G	ENSP00000489696.2:n.1191+645A>G
ENST00000637669.1:c.1322A>G	ENSP00000489728.1:p.Asp441Gly
ENST00000639722.1:c.*1018A>G	ENSP00000492828.1:n.*1018A>G
ENST00000674592.1:n.2836A>G
ENST00000675622.1:n.4389A>G
ENST00000679609.1:c.*932A>G	ENSP00000506592.1:n.*932A>G
ENST00000679656.1:n.2007A>G
ENST00000679723.1:c.1277A>G	ENSP00000505155.1:p.Asp426Gly
ENST00000679845.1:n.1630A>G
ENST00000679904.1:n.1718A>G
ENST00000680378.1:c.1409A>G	ENSP00000505556.1:p.Asp470Gly
ENST00000680444.1:c.*685A>G	ENSP00000505298.1:n.*685A>G
ENST00000680978.1:c.1322A>G	ENSP00000505244.1:p.Asp441Gly
ENST00000681003.1:n.785A>G
ENST00000681159.1:n.2726A>G
ENST00000216194.11:c.1364A>G	ENSP00000216194.8:p.Asp455Gly
ENST00000342312.9:c.1191+645A>G	ENSP00000341429.6:n.1191+645A>G
ENST00000423176.6:c.49A>G
ENST00000623063.3:c.1322A>G MANE Select	ENSP00000485525.1:p.Asp441Gly
ENST00000623387.1:n.453A>G
ENST00000623869.3:c.53A>G	ENSP00000485211.1:p.Asp18Gly
ENST00000624027.1:c.49A>G
ENST00000625194.3:c.951A>G
NM_000026.2:c.1322A>G	NP_000017.1:p.Asp441Gly
NM_001123378.1:c.1191+645A>G	NP_001116850.1:n.1191+645A>G
XM_011529976.1:c.1322A>G	XP_011528278.1:p.Asp441Gly
XM_011529977.1:c.1322A>G	XP_011528279.1:p.Asp441Gly
XM_011529978.1:c.1191+645A>G	XP_011528280.1:n.1191+645A>G
XM_011529979.1:c.1322A>G	XP_011528281.1:p.Asp441Gly
XM_011529980.1:c.1191+645A>G	XP_011528282.1:n.1191+645A>G
XM_011529981.1:c.857A>G	XP_011528283.1:p.Asp286Gly
XM_011529982.1:c.491A>G	XP_011528284.1:p.Asp164Gly
XR_937824.1:n.1412A>G
XR_937825.1:n.1281+645A>G
NM_000026.3:c.1322A>G	NP_000017.1:p.Asp441Gly
NM_001123378.2:c.1191+645A>G	NP_001116850.1:n.1191+645A>G
NM_001317923.1:c.1130A>G	NP_001304852.1:p.Asp377Gly
NM_001363840.1:c.1322A>G	NP_001350769.1:p.Asp441Gly
NR_134256.1:n.1412A>G
XM_011529977.3:c.1322A>G	XP_011528279.1:p.Asp441Gly
XM_011529980.3:c.1191+645A>G	XP_011528282.1:n.1191+645A>G
XM_017028636.1:c.1277A>G	XP_016884125.1:p.Asp426Gly
XM_017028637.1:c.1277A>G	XP_016884126.1:p.Asp426Gly
XM_017028638.1:c.857A>G	XP_016884127.1:p.Asp286Gly
XM_017028639.2:c.857A>G	XP_016884128.1:p.Asp286Gly
XM_017028640.1:c.491A>G	XP_016884129.1:p.Asp164Gly
XM_024452166.1:c.1146+645A>G	XP_024307934.1:n.1146+645A>G
XR_001755176.2:n.1564A>G
XR_002958670.1:n.1349A>G
XR_937825.3:n.1279+645A>G
NM_000026.4:c.1322A>G MANE Select	NP_000017.1:p.Asp441Gly
NM_001363840.2:c.1322A>G	NP_001350769.1:p.Asp441Gly
NM_001123378.3:c.1191+645A>G	NP_001116850.1:n.1191+645A>G
NM_001317923.2:c.1130A>G	NP_001304852.1:p.Asp377Gly
NM_001363840.3:c.1322A>G	NP_001350769.1:p.Asp441Gly
NR_134256.2:n.1412A>G