Canonical Allele Identifier: CA367644375

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65552717A>C (hg19) ; chr7:g.66087730A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087730A>C , CM000669.2:g.66087730A>C	GRCh38
NC_000007.13:g.65552717A>C , CM000669.1:g.65552717A>C	GRCh37
NC_000007.12:g.65190152A>C	NCBI36
NG_009288.1:g.16942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.657A>C MANE Select	ENSP00000307188.9:p.Glu219Asp
ENST00000362000.10:c.462A>C	ENSP00000354710.6:p.Glu154Asp
ENST00000380839.9:c.579A>C	ENSP00000370219.4:p.Glu193Asp
ENST00000395331.4:c.657A>C	ENSP00000378740.3:p.Glu219Asp
ENST00000395332.8:c.657A>C	ENSP00000378741.3:p.Glu219Asp
ENST00000671817.1:c.579A>C	ENSP00000500462.1:p.Glu193Asp
ENST00000672498.1:c.448A>C	ENSP00000500227.1:p.Thr150Pro
ENST00000672586.1:n.1416A>C
ENST00000672676.1:n.1681A>C
ENST00000673149.1:n.469A>C
ENST00000673350.1:n.1759A>C
ENST00000673518.1:c.579A>C	ENSP00000499889.1:p.Glu193Asp
ENST00000304874.13:c.657A>C	ENSP00000307188.9:p.Glu219Asp
ENST00000362000.9:c.462A>C	ENSP00000354710.5:p.Glu154Asp
ENST00000380839.8:c.579A>C	ENSP00000370219.4:p.Glu193Asp
ENST00000395331.3:c.657A>C	ENSP00000378740.3:p.Glu219Asp
ENST00000395332.7:c.657A>C	ENSP00000378741.3:p.Glu219Asp
ENST00000493708.5:n.38A>C
NM_000048.3:c.657A>C	NP_000039.2:p.Glu219Asp
NM_001024943.1:c.657A>C	NP_001020114.1:p.Glu219Asp
NM_001024944.1:c.657A>C	NP_001020115.1:p.Glu219Asp
NM_001024946.1:c.579A>C	NP_001020117.1:p.Glu193Asp
NM_000048.4:c.657A>C MANE Select	NP_000039.2:p.Glu219Asp
NM_001024943.2:c.657A>C	NP_001020114.1:p.Glu219Asp
NM_001024944.2:c.657A>C	NP_001020115.1:p.Glu219Asp
NM_001024946.2:c.579A>C	NP_001020117.1:p.Glu193Asp