Canonical Allele Identifier: CA455453163

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092912G>A , CM000669.2:g.66092912G>A	GRCh38
NC_000007.13:g.65557899G>A , CM000669.1:g.65557899G>A	GRCh37
NC_000007.12:g.65195334G>A	NCBI36
NG_009288.1:g.22124G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.1395G>A MANE Select	NP_000039.2:p.Ter465=
ENST00000304874.14:c.1395G>A MANE Select	ENSP00000307188.9:p.Ter465=
NM_000048.3:c.1395G>A	NP_000039.2:p.Ter465=
NM_001024943.1:c.1395G>A	NP_001020114.1:p.Ter465=
NM_001024943.2:c.1395G>A	NP_001020114.1:p.Ter465=
NM_001024944.1:c.1335G>A	NP_001020115.1:p.Ter445=
NM_001024944.2:c.1335G>A	NP_001020115.1:p.Ter445=
NM_001024946.1:c.1317G>A	NP_001020117.1:p.Ter439=
NM_001024946.2:c.1317G>A	NP_001020117.1:p.Ter439=
ENST00000304874.13:c.1395G>A	ENSP00000307188.9:p.Ter465=
ENST00000362000.10:c.1200G>A	ENSP00000354710.6:p.Ter400=
ENST00000380839.8:c.1317G>A	ENSP00000370219.4:p.Ter439=
ENST00000380839.9:c.1317G>A	ENSP00000370219.4:p.Ter439=
ENST00000395331.3:c.1335G>A	ENSP00000378740.3:p.Ter445=
ENST00000395331.4:c.1335G>A	ENSP00000378740.3:p.Ter445=
ENST00000395332.7:c.1395G>A	ENSP00000378741.3:p.Ter465=
ENST00000395332.8:c.1395G>A	ENSP00000378741.3:p.Ter465=
ENST00000450043.2:c.563+249G>A	ENSP00000396527.2:n.563+249G>A
ENST00000464970.1:n.598G>A
ENST00000488343.1:n.156G>A
ENST00000488343.2:c.156G>A	ENSP00000500864.1:p.Ter52=
ENST00000493708.5:n.876G>A
ENST00000672498.1:c.*798G>A	ENSP00000500227.1:n.*798G>A
ENST00000672586.1:n.2154G>A
ENST00000672676.1:n.2419G>A
ENST00000673149.1:n.1207G>A
ENST00000673350.1:n.3512G>A
ENST00000673518.1:c.1317G>A	ENSP00000499889.1:p.Ter439=