Canonical Allele Identifier: CA367642681

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086796C>T , CM000669.2:g.66086796C>T	GRCh38
NC_000007.13:g.65551783C>T , CM000669.1:g.65551783C>T	GRCh37
NC_000007.12:g.65189218C>T	NCBI36
NG_009288.1:g.16008C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.577C>T MANE Select	NP_000039.2:p.Arg193Trp
ENST00000304874.14:c.577C>T MANE Select	ENSP00000307188.9:p.Arg193Trp
NM_000048.3:c.577C>T	NP_000039.2:p.Arg193Trp
NM_001024943.1:c.577C>T	NP_001020114.1:p.Arg193Trp
NM_001024943.2:c.577C>T	NP_001020114.1:p.Arg193Trp
NM_001024944.1:c.577C>T	NP_001020115.1:p.Arg193Trp
NM_001024944.2:c.577C>T	NP_001020115.1:p.Arg193Trp
NM_001024946.1:c.524+134C>T	NP_001020117.1:n.524+134C>T
NM_001024946.2:c.524+134C>T	NP_001020117.1:n.524+134C>T
ENST00000304874.13:c.577C>T	ENSP00000307188.9:p.Arg193Trp
ENST00000362000.10:c.382C>T	ENSP00000354710.6:p.Arg128Trp
ENST00000362000.9:c.382C>T	ENSP00000354710.5:p.Arg128Trp
ENST00000380839.8:c.524+134C>T	ENSP00000370219.4:n.524+134C>T
ENST00000380839.9:c.524+134C>T	ENSP00000370219.4:n.524+134C>T
ENST00000395331.3:c.577C>T	ENSP00000378740.3:p.Arg193Trp
ENST00000395331.4:c.577C>T	ENSP00000378740.3:p.Arg193Trp
ENST00000395332.7:c.577C>T	ENSP00000378741.3:p.Arg193Trp
ENST00000395332.8:c.577C>T	ENSP00000378741.3:p.Arg193Trp
ENST00000487982.5:n.643C>T
ENST00000671817.1:c.524+134C>T	ENSP00000500462.1:n.524+134C>T
ENST00000672498.1:c.447-933C>T	ENSP00000500227.1:n.447-933C>T
ENST00000672586.1:n.482C>T
ENST00000672676.1:n.747C>T
ENST00000673149.1:n.389C>T
ENST00000673350.1:n.825C>T
ENST00000673518.1:c.524+134C>T	ENSP00000499889.1:n.524+134C>T
ENST00000673594.1:n.426C>T