Canonical Allele Identifier: CA4277167

Gene: ASL

Linked Data

• dbSNP Id: rs758359461
• ExAC: 7:65554149 G / A
• gnomAD v2: 7-65554149-G-A
• gnomAD v4: 7-66089162-G-A
• MyVariant Identifiers: chr7:g.65554149G>A (hg19) ; chr7:g.66089162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089162G>A , CM000669.2:g.66089162G>A	GRCh38
NC_000007.13:g.65554149G>A , CM000669.1:g.65554149G>A	GRCh37
NC_000007.12:g.65191584G>A	NCBI36
NG_009288.1:g.18374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.905G>A MANE Select	ENSP00000307188.9:p.Arg302His
ENST00000362000.10:c.710G>A	ENSP00000354710.6:p.Arg237His
ENST00000380839.9:c.827G>A	ENSP00000370219.4:p.Arg276His
ENST00000395331.4:c.905G>A	ENSP00000378740.3:p.Arg302His
ENST00000395332.8:c.905G>A	ENSP00000378741.3:p.Arg302His
ENST00000488343.2:c.74G>A	ENSP00000500864.1:p.Arg25His
ENST00000671817.1:c.827G>A	ENSP00000500462.1:p.Arg276His
ENST00000672498.1:c.*204G>A	ENSP00000500227.1:n.*204G>A
ENST00000672586.1:n.1664G>A
ENST00000672676.1:n.1929G>A
ENST00000673149.1:n.717G>A
ENST00000673350.1:n.3022G>A
ENST00000673518.1:c.827G>A	ENSP00000499889.1:p.Arg276His
ENST00000304874.13:c.905G>A	ENSP00000307188.9:p.Arg302His
ENST00000362000.9:c.710G>A	ENSP00000354710.5:p.Arg237His
ENST00000380839.8:c.827G>A	ENSP00000370219.4:p.Arg276His
ENST00000395331.3:c.905G>A	ENSP00000378740.3:p.Arg302His
ENST00000395332.7:c.905G>A	ENSP00000378741.3:p.Arg302His
ENST00000450043.2:c.218G>A	ENSP00000396527.2:p.Arg73His
ENST00000488343.1:n.74G>A
ENST00000493708.5:n.286G>A
NM_000048.3:c.905G>A	NP_000039.2:p.Arg302His
NM_001024943.1:c.905G>A	NP_001020114.1:p.Arg302His
NM_001024944.1:c.905G>A	NP_001020115.1:p.Arg302His
NM_001024946.1:c.827G>A	NP_001020117.1:p.Arg276His
NM_000048.4:c.905G>A MANE Select	NP_000039.2:p.Arg302His
NM_001024943.2:c.905G>A	NP_001020114.1:p.Arg302His
NM_001024944.2:c.905G>A	NP_001020115.1:p.Arg302His
NM_001024946.2:c.827G>A	NP_001020117.1:p.Arg276His