Canonical Allele Identifier: CA367645769

Gene: ASL

Linked Data

• dbSNP Id: rs1161412459
• gnomAD v2: 7-65554145-G-C
• MyVariant Identifiers: chr7:g.65554145G>C (hg19) ; chr7:g.66089158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089158G>C , CM000669.2:g.66089158G>C	GRCh38
NC_000007.13:g.65554145G>C , CM000669.1:g.65554145G>C	GRCh37
NC_000007.12:g.65191580G>C	NCBI36
NG_009288.1:g.18370G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.901G>C MANE Select	ENSP00000307188.9:p.Gly301Arg
ENST00000362000.10:c.706G>C	ENSP00000354710.6:p.Gly236Arg
ENST00000380839.9:c.823G>C	ENSP00000370219.4:p.Gly275Arg
ENST00000395331.4:c.901G>C	ENSP00000378740.3:p.Gly301Arg
ENST00000395332.8:c.901G>C	ENSP00000378741.3:p.Gly301Arg
ENST00000488343.2:c.70G>C	ENSP00000500864.1:p.Gly24Arg
ENST00000671817.1:c.823G>C	ENSP00000500462.1:p.Gly275Arg
ENST00000672498.1:c.*200G>C	ENSP00000500227.1:n.*200G>C
ENST00000672586.1:n.1660G>C
ENST00000672676.1:n.1925G>C
ENST00000673149.1:n.713G>C
ENST00000673350.1:n.3018G>C
ENST00000673518.1:c.823G>C	ENSP00000499889.1:p.Gly275Arg
ENST00000304874.13:c.901G>C	ENSP00000307188.9:p.Gly301Arg
ENST00000362000.9:c.706G>C	ENSP00000354710.5:p.Gly236Arg
ENST00000380839.8:c.823G>C	ENSP00000370219.4:p.Gly275Arg
ENST00000395331.3:c.901G>C	ENSP00000378740.3:p.Gly301Arg
ENST00000395332.7:c.901G>C	ENSP00000378741.3:p.Gly301Arg
ENST00000450043.2:c.214G>C	ENSP00000396527.2:p.Gly72Arg
ENST00000488343.1:n.70G>C
ENST00000493708.5:n.282G>C
NM_000048.3:c.901G>C	NP_000039.2:p.Gly301Arg
NM_001024943.1:c.901G>C	NP_001020114.1:p.Gly301Arg
NM_001024944.1:c.901G>C	NP_001020115.1:p.Gly301Arg
NM_001024946.1:c.823G>C	NP_001020117.1:p.Gly275Arg
NM_000048.4:c.901G>C MANE Select	NP_000039.2:p.Gly301Arg
NM_001024943.2:c.901G>C	NP_001020114.1:p.Gly301Arg
NM_001024944.2:c.901G>C	NP_001020115.1:p.Gly301Arg
NM_001024946.2:c.823G>C	NP_001020117.1:p.Gly275Arg