Canonical Allele Identifier: CA367645863

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554157G>C (hg19) ; chr7:g.66089170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089170G>C , CM000669.2:g.66089170G>C	GRCh38
NC_000007.13:g.65554157G>C , CM000669.1:g.65554157G>C	GRCh37
NC_000007.12:g.65191592G>C	NCBI36
NG_009288.1:g.18382G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.913G>C MANE Select	ENSP00000307188.9:p.Gly305Arg
ENST00000362000.10:c.718G>C	ENSP00000354710.6:p.Gly240Arg
ENST00000380839.9:c.835G>C	ENSP00000370219.4:p.Gly279Arg
ENST00000395331.4:c.913G>C	ENSP00000378740.3:p.Gly305Arg
ENST00000395332.8:c.913G>C	ENSP00000378741.3:p.Gly305Arg
ENST00000488343.2:c.82G>C	ENSP00000500864.1:p.Gly28Arg
ENST00000671817.1:c.835G>C	ENSP00000500462.1:p.Gly279Arg
ENST00000672498.1:c.*212G>C	ENSP00000500227.1:n.*212G>C
ENST00000672586.1:n.1672G>C
ENST00000672676.1:n.1937G>C
ENST00000673149.1:n.725G>C
ENST00000673350.1:n.3030G>C
ENST00000673518.1:c.835G>C	ENSP00000499889.1:p.Gly279Arg
ENST00000304874.13:c.913G>C	ENSP00000307188.9:p.Gly305Arg
ENST00000362000.9:c.718G>C	ENSP00000354710.5:p.Gly240Arg
ENST00000380839.8:c.835G>C	ENSP00000370219.4:p.Gly279Arg
ENST00000395331.3:c.913G>C	ENSP00000378740.3:p.Gly305Arg
ENST00000395332.7:c.913G>C	ENSP00000378741.3:p.Gly305Arg
ENST00000450043.2:c.226G>C	ENSP00000396527.2:p.Gly76Arg
ENST00000488343.1:n.82G>C
ENST00000493708.5:n.294G>C
NM_000048.3:c.913G>C	NP_000039.2:p.Gly305Arg
NM_001024943.1:c.913G>C	NP_001020114.1:p.Gly305Arg
NM_001024944.1:c.913G>C	NP_001020115.1:p.Gly305Arg
NM_001024946.1:c.835G>C	NP_001020117.1:p.Gly279Arg
NM_000048.4:c.913G>C MANE Select	NP_000039.2:p.Gly305Arg
NM_001024943.2:c.913G>C	NP_001020114.1:p.Gly305Arg
NM_001024944.2:c.913G>C	NP_001020115.1:p.Gly305Arg
NM_001024946.2:c.835G>C	NP_001020117.1:p.Gly279Arg