Canonical Allele Identifier: CA455450471

Gene: ASL

Linked Data

• gnomAD v4: 7-66086750-C-G
• MyVariant Identifiers: chr7:g.65551737C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086750C>G , CM000669.2:g.66086750C>G	GRCh38
NC_000007.13:g.65551737C>G , CM000669.1:g.65551737C>G	GRCh37
NC_000007.12:g.65189172C>G	NCBI36
NG_009288.1:g.15962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.531C>G MANE Select	ENSP00000307188.9:p.Ala177=
ENST00000362000.10:c.336C>G	ENSP00000354710.6:p.Ala112=
ENST00000380839.9:c.524+88C>G	ENSP00000370219.4:n.524+88C>G
ENST00000395331.4:c.531C>G	ENSP00000378740.3:p.Ala177=
ENST00000395332.8:c.531C>G	ENSP00000378741.3:p.Ala177=
ENST00000671817.1:c.524+88C>G	ENSP00000500462.1:n.524+88C>G
ENST00000672498.1:c.447-979C>G	ENSP00000500227.1:n.447-979C>G
ENST00000672586.1:n.436C>G
ENST00000672676.1:n.701C>G
ENST00000673149.1:n.343C>G
ENST00000673350.1:n.779C>G
ENST00000673518.1:c.524+88C>G	ENSP00000499889.1:n.524+88C>G
ENST00000673594.1:n.380C>G
ENST00000304874.13:c.531C>G	ENSP00000307188.9:p.Ala177=
ENST00000362000.9:c.336C>G	ENSP00000354710.5:p.Ala112=
ENST00000380839.8:c.524+88C>G	ENSP00000370219.4:n.524+88C>G
ENST00000395331.3:c.531C>G	ENSP00000378740.3:p.Ala177=
ENST00000395332.7:c.531C>G	ENSP00000378741.3:p.Ala177=
ENST00000487982.5:n.597C>G
NM_000048.3:c.531C>G	NP_000039.2:p.Ala177=
NM_001024943.1:c.531C>G	NP_001020114.1:p.Ala177=
NM_001024944.1:c.531C>G	NP_001020115.1:p.Ala177=
NM_001024946.1:c.524+88C>G	NP_001020117.1:n.524+88C>G
NM_000048.4:c.531C>G MANE Select	NP_000039.2:p.Ala177=
NM_001024943.2:c.531C>G	NP_001020114.1:p.Ala177=
NM_001024944.2:c.531C>G	NP_001020115.1:p.Ala177=
NM_001024946.2:c.524+88C>G	NP_001020117.1:n.524+88C>G