Canonical Allele Identifier: CA367641808

Gene: ASL

Linked Data

• ClinVar Variation Id: 1013002
• ClinVar RCV Id: RCV001311282
• dbSNP Id: rs562503544
• MyVariant Identifiers: chr7:g.65551595G>T (hg19) ; chr7:g.66086608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086608G>T , CM000669.2:g.66086608G>T	GRCh38
NC_000007.13:g.65551595G>T , CM000669.1:g.65551595G>T	GRCh37
NC_000007.12:g.65189030G>T	NCBI36
NG_009288.1:g.15820G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.470G>T MANE Select	ENSP00000307188.9:p.Gly157Val
ENST00000362000.10:c.275G>T	ENSP00000354710.6:p.Gly92Val
ENST00000380839.9:c.470G>T	ENSP00000370219.4:p.Gly157Val
ENST00000395331.4:c.470G>T	ENSP00000378740.3:p.Gly157Val
ENST00000395332.8:c.470G>T	ENSP00000378741.3:p.Gly157Val
ENST00000671817.1:c.470G>T	ENSP00000500462.1:p.Gly157Val
ENST00000672498.1:c.447-1121G>T	ENSP00000500227.1:n.447-1121G>T
ENST00000672586.1:n.375G>T
ENST00000672676.1:n.640G>T
ENST00000673149.1:n.282G>T
ENST00000673350.1:n.718G>T
ENST00000673518.1:c.470G>T	ENSP00000499889.1:p.Gly157Val
ENST00000673594.1:n.319G>T
ENST00000304874.13:c.470G>T	ENSP00000307188.9:p.Gly157Val
ENST00000362000.9:c.275G>T	ENSP00000354710.5:p.Gly92Val
ENST00000380839.8:c.470G>T	ENSP00000370219.4:p.Gly157Val
ENST00000395331.3:c.470G>T	ENSP00000378740.3:p.Gly157Val
ENST00000395332.7:c.470G>T	ENSP00000378741.3:p.Gly157Val
ENST00000487982.5:n.536G>T
NM_000048.3:c.470G>T	NP_000039.2:p.Gly157Val
NM_001024943.1:c.470G>T	NP_001020114.1:p.Gly157Val
NM_001024944.1:c.470G>T	NP_001020115.1:p.Gly157Val
NM_001024946.1:c.470G>T	NP_001020117.1:p.Gly157Val
NM_000048.4:c.470G>T MANE Select	NP_000039.2:p.Gly157Val
NM_001024943.2:c.470G>T	NP_001020114.1:p.Gly157Val
NM_001024944.2:c.470G>T	NP_001020115.1:p.Gly157Val
NM_001024946.2:c.470G>T	NP_001020117.1:p.Gly157Val