Canonical Allele Identifier: CA4277165

Gene: ASL

Linked Data

• ClinVar Variation Id: 554299
• ClinVar RCV Id: RCV000669909
• dbSNP Id: rs750431938
• ExAC: 7:65554134 G / A
• gnomAD v2: 7-65554134-G-A
• gnomAD v4: 7-66089147-G-A
• MyVariant Identifiers: chr7:g.65554134G>A (hg19) ; chr7:g.66089147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089147G>A , CM000669.2:g.66089147G>A	GRCh38
NC_000007.13:g.65554134G>A , CM000669.1:g.65554134G>A	GRCh37
NC_000007.12:g.65191569G>A	NCBI36
NG_009288.1:g.18359G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.890G>A MANE Select	ENSP00000307188.9:p.Arg297Gln
ENST00000362000.10:c.695G>A	ENSP00000354710.6:p.Arg232Gln
ENST00000380839.9:c.812G>A	ENSP00000370219.4:p.Arg271Gln
ENST00000395331.4:c.890G>A	ENSP00000378740.3:p.Arg297Gln
ENST00000395332.8:c.890G>A	ENSP00000378741.3:p.Arg297Gln
ENST00000488343.2:c.59G>A	ENSP00000500864.1:p.Arg20Gln
ENST00000671817.1:c.812G>A	ENSP00000500462.1:p.Arg271Gln
ENST00000672498.1:c.*189G>A	ENSP00000500227.1:n.*189G>A
ENST00000672586.1:n.1649G>A
ENST00000672676.1:n.1914G>A
ENST00000673149.1:n.702G>A
ENST00000673350.1:n.3007G>A
ENST00000673518.1:c.812G>A	ENSP00000499889.1:p.Arg271Gln
ENST00000304874.13:c.890G>A	ENSP00000307188.9:p.Arg297Gln
ENST00000362000.9:c.695G>A	ENSP00000354710.5:p.Arg232Gln
ENST00000380839.8:c.812G>A	ENSP00000370219.4:p.Arg271Gln
ENST00000395331.3:c.890G>A	ENSP00000378740.3:p.Arg297Gln
ENST00000395332.7:c.890G>A	ENSP00000378741.3:p.Arg297Gln
ENST00000450043.2:c.203G>A	ENSP00000396527.2:p.Arg68Gln
ENST00000488343.1:n.59G>A
ENST00000493708.5:n.271G>A
NM_000048.3:c.890G>A	NP_000039.2:p.Arg297Gln
NM_001024943.1:c.890G>A	NP_001020114.1:p.Arg297Gln
NM_001024944.1:c.890G>A	NP_001020115.1:p.Arg297Gln
NM_001024946.1:c.812G>A	NP_001020117.1:p.Arg271Gln
NM_000048.4:c.890G>A MANE Select	NP_000039.2:p.Arg297Gln
NM_001024943.2:c.890G>A	NP_001020114.1:p.Arg297Gln
NM_001024944.2:c.890G>A	NP_001020115.1:p.Arg297Gln
NM_001024946.2:c.812G>A	NP_001020117.1:p.Arg271Gln