Canonical Allele Identifier: CA4277100

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087779C>T , CM000669.2:g.66087779C>T	GRCh38
NC_000007.13:g.65552766C>T , CM000669.1:g.65552766C>T	GRCh37
NC_000007.12:g.65190201C>T	NCBI36
NG_009288.1:g.16991C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.706C>T MANE Select	NP_000039.2:p.Arg236Trp
ENST00000304874.14:c.706C>T MANE Select	ENSP00000307188.9:p.Arg236Trp
NM_000048.3:c.706C>T	NP_000039.2:p.Arg236Trp
NM_001024943.1:c.706C>T	NP_001020114.1:p.Arg236Trp
NM_001024943.2:c.706C>T	NP_001020114.1:p.Arg236Trp
NM_001024944.1:c.706C>T	NP_001020115.1:p.Arg236Trp
NM_001024944.2:c.706C>T	NP_001020115.1:p.Arg236Trp
NM_001024946.1:c.628C>T	NP_001020117.1:p.Arg210Trp
NM_001024946.2:c.628C>T	NP_001020117.1:p.Arg210Trp
ENST00000304874.13:c.706C>T	ENSP00000307188.9:p.Arg236Trp
ENST00000362000.10:c.511C>T	ENSP00000354710.6:p.Arg171Trp
ENST00000362000.9:c.511C>T	ENSP00000354710.5:p.Arg171Trp
ENST00000380839.8:c.628C>T	ENSP00000370219.4:p.Arg210Trp
ENST00000380839.9:c.628C>T	ENSP00000370219.4:p.Arg210Trp
ENST00000395331.3:c.706C>T	ENSP00000378740.3:p.Arg236Trp
ENST00000395331.4:c.706C>T	ENSP00000378740.3:p.Arg236Trp
ENST00000395332.7:c.706C>T	ENSP00000378741.3:p.Arg236Trp
ENST00000395332.8:c.706C>T	ENSP00000378741.3:p.Arg236Trp
ENST00000450043.2:c.19C>T	ENSP00000396527.2:p.Arg7Trp
ENST00000493708.5:n.87C>T
ENST00000671817.1:c.628C>T	ENSP00000500462.1:p.Arg210Trp
ENST00000672498.1:c.*5C>T	ENSP00000500227.1:n.*5C>T
ENST00000672586.1:n.1465C>T
ENST00000672676.1:n.1730C>T
ENST00000673149.1:n.518C>T
ENST00000673350.1:n.1808C>T
ENST00000673518.1:c.628C>T	ENSP00000499889.1:p.Arg210Trp