Canonical Allele Identifier: CA455450292

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65548150T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083163T>C , CM000669.2:g.66083163T>C	GRCh38
NC_000007.13:g.65548150T>C , CM000669.1:g.65548150T>C	GRCh37
NC_000007.12:g.65185585T>C	NCBI36
NG_009288.1:g.12375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.435T>C MANE Select	ENSP00000307188.9:p.Asp145=
ENST00000362000.10:c.240T>C	ENSP00000354710.6:p.Asp80=
ENST00000380839.9:c.435T>C	ENSP00000370219.4:p.Asp145=
ENST00000395331.4:c.435T>C	ENSP00000378740.3:p.Asp145=
ENST00000395332.8:c.435T>C	ENSP00000378741.3:p.Asp145=
ENST00000671817.1:c.435T>C	ENSP00000500462.1:p.Asp145=
ENST00000672498.1:c.435T>C	ENSP00000500227.1:p.Asp145=
ENST00000672586.1:n.340T>C
ENST00000672676.1:n.605T>C
ENST00000673149.1:n.247T>C
ENST00000673350.1:n.683T>C
ENST00000673518.1:c.435T>C	ENSP00000499889.1:p.Asp145=
ENST00000673594.1:n.284T>C
ENST00000304874.13:c.435T>C	ENSP00000307188.9:p.Asp145=
ENST00000362000.9:c.240T>C	ENSP00000354710.5:p.Asp80=
ENST00000380839.8:c.435T>C	ENSP00000370219.4:p.Asp145=
ENST00000395331.3:c.435T>C	ENSP00000378740.3:p.Asp145=
ENST00000395332.7:c.435T>C	ENSP00000378741.3:p.Asp145=
ENST00000487982.5:n.501T>C
ENST00000496336.1:n.816T>C
NM_000048.3:c.435T>C	NP_000039.2:p.Asp145=
NM_001024943.1:c.435T>C	NP_001020114.1:p.Asp145=
NM_001024944.1:c.435T>C	NP_001020115.1:p.Asp145=
NM_001024946.1:c.435T>C	NP_001020117.1:p.Asp145=
NM_000048.4:c.435T>C MANE Select	NP_000039.2:p.Asp145=
NM_001024943.2:c.435T>C	NP_001020114.1:p.Asp145=
NM_001024944.2:c.435T>C	NP_001020115.1:p.Asp145=
NM_001024946.2:c.435T>C	NP_001020117.1:p.Asp145=