Canonical Allele Identifier: CA1713929221

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092874C= , CM000669.2:g.66092874C=	GRCh38
NC_000007.13:g.65557861C= , CM000669.1:g.65557861C=	GRCh37
NC_000007.12:g.65195296C=	NCBI36
NG_009288.1:g.22086C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1357C= MANE Select	ENSP00000307188.9:p.Arg453=
ENST00000362000.10:c.1162C=	ENSP00000354710.6:p.Arg388=
ENST00000380839.9:c.1279C=	ENSP00000370219.4:p.Arg427=
ENST00000395331.4:c.1297C=	ENSP00000378740.3:p.Arg433=
ENST00000395332.8:c.1357C=	ENSP00000378741.3:p.Arg453=
ENST00000488343.2:c.148-30C=	ENSP00000500864.1:n.148-30C=
ENST00000672498.1:c.*760C=	ENSP00000500227.1:n.*760C=
ENST00000672586.1:n.2116C=
ENST00000672676.1:n.2381C=
ENST00000673149.1:n.1169C=
ENST00000673350.1:n.3474C=
ENST00000673518.1:c.1279C=	ENSP00000499889.1:p.Arg427=
ENST00000304874.13:c.1357C=	ENSP00000307188.9:p.Arg453=
ENST00000380839.8:c.1279C=	ENSP00000370219.4:p.Arg427=
ENST00000395331.3:c.1297C=	ENSP00000378740.3:p.Arg433=
ENST00000395332.7:c.1357C=	ENSP00000378741.3:p.Arg453=
ENST00000450043.2:c.563+211C=	ENSP00000396527.2:n.563+211C=
ENST00000464970.1:n.560C=
ENST00000488343.1:n.148-30C=
ENST00000493708.5:n.838C=
NM_000048.3:c.1357C=	NP_000039.2:p.Arg453=
NM_001024943.1:c.1357C=	NP_001020114.1:p.Arg453=
NM_001024944.1:c.1297C=	NP_001020115.1:p.Arg433=
NM_001024946.1:c.1279C=	NP_001020117.1:p.Arg427=
NM_000048.4:c.1357C= MANE Select	NP_000039.2:p.Arg453=
NM_001024943.2:c.1357C=	NP_001020114.1:p.Arg453=
NM_001024944.2:c.1297C=	NP_001020115.1:p.Arg433=
NM_001024946.2:c.1279C=	NP_001020117.1:p.Arg427=