Canonical Allele Identifier: CA367644685

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087764G>C , CM000669.2:g.66087764G>C	GRCh38
NC_000007.13:g.65552751G>C , CM000669.1:g.65552751G>C	GRCh37
NC_000007.12:g.65190186G>C	NCBI36
NG_009288.1:g.16976G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.691G>C MANE Select	NP_000039.2:p.Asp231His
ENST00000304874.14:c.691G>C MANE Select	ENSP00000307188.9:p.Asp231His
NM_000048.3:c.691G>C	NP_000039.2:p.Asp231His
NM_001024943.1:c.691G>C	NP_001020114.1:p.Asp231His
NM_001024943.2:c.691G>C	NP_001020114.1:p.Asp231His
NM_001024944.1:c.691G>C	NP_001020115.1:p.Asp231His
NM_001024944.2:c.691G>C	NP_001020115.1:p.Asp231His
NM_001024946.1:c.613G>C	NP_001020117.1:p.Asp205His
NM_001024946.2:c.613G>C	NP_001020117.1:p.Asp205His
ENST00000304874.13:c.691G>C	ENSP00000307188.9:p.Asp231His
ENST00000362000.10:c.496G>C	ENSP00000354710.6:p.Asp166His
ENST00000362000.9:c.496G>C	ENSP00000354710.5:p.Asp166His
ENST00000380839.8:c.613G>C	ENSP00000370219.4:p.Asp205His
ENST00000380839.9:c.613G>C	ENSP00000370219.4:p.Asp205His
ENST00000395331.3:c.691G>C	ENSP00000378740.3:p.Asp231His
ENST00000395331.4:c.691G>C	ENSP00000378740.3:p.Asp231His
ENST00000395332.7:c.691G>C	ENSP00000378741.3:p.Asp231His
ENST00000395332.8:c.691G>C	ENSP00000378741.3:p.Asp231His
ENST00000450043.2:c.4G>C	ENSP00000396527.2:p.Asp2His
ENST00000493708.5:n.72G>C
ENST00000671817.1:c.613G>C	ENSP00000500462.1:p.Asp205His
ENST00000672498.1:c.482G>C	ENSP00000500227.1:p.Gly161Ala
ENST00000672586.1:n.1450G>C
ENST00000672676.1:n.1715G>C
ENST00000673149.1:n.503G>C
ENST00000673350.1:n.1793G>C
ENST00000673518.1:c.613G>C	ENSP00000499889.1:p.Asp205His