Canonical Allele Identifier: CA455450240

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65548096G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083109G>A , CM000669.2:g.66083109G>A	GRCh38
NC_000007.13:g.65548096G>A , CM000669.1:g.65548096G>A	GRCh37
NC_000007.12:g.65185531G>A	NCBI36
NG_009288.1:g.12321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.381G>A MANE Select	ENSP00000307188.9:p.Gln127=
ENST00000362000.10:c.186G>A	ENSP00000354710.6:p.Gln62=
ENST00000380839.9:c.381G>A	ENSP00000370219.4:p.Gln127=
ENST00000395331.4:c.381G>A	ENSP00000378740.3:p.Gln127=
ENST00000395332.8:c.381G>A	ENSP00000378741.3:p.Gln127=
ENST00000671817.1:c.381G>A	ENSP00000500462.1:p.Gln127=
ENST00000672498.1:c.381G>A	ENSP00000500227.1:p.Gln127=
ENST00000672586.1:n.286G>A
ENST00000672676.1:n.551G>A
ENST00000673149.1:n.193G>A
ENST00000673350.1:n.629G>A
ENST00000673518.1:c.381G>A	ENSP00000499889.1:p.Gln127=
ENST00000673594.1:n.230G>A
ENST00000304874.13:c.381G>A	ENSP00000307188.9:p.Gln127=
ENST00000362000.9:c.186G>A	ENSP00000354710.5:p.Gln62=
ENST00000380839.8:c.381G>A	ENSP00000370219.4:p.Gln127=
ENST00000395331.3:c.381G>A	ENSP00000378740.3:p.Gln127=
ENST00000395332.7:c.381G>A	ENSP00000378741.3:p.Gln127=
ENST00000487982.5:n.447G>A
ENST00000496336.1:n.762G>A
NM_000048.3:c.381G>A	NP_000039.2:p.Gln127=
NM_001024943.1:c.381G>A	NP_001020114.1:p.Gln127=
NM_001024944.1:c.381G>A	NP_001020115.1:p.Gln127=
NM_001024946.1:c.381G>A	NP_001020117.1:p.Gln127=
NM_000048.4:c.381G>A MANE Select	NP_000039.2:p.Gln127=
NM_001024943.2:c.381G>A	NP_001020114.1:p.Gln127=
NM_001024944.2:c.381G>A	NP_001020115.1:p.Gln127=
NM_001024946.2:c.381G>A	NP_001020117.1:p.Gln127=