Canonical Allele Identifier: CA4277097

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087747T>C , CM000669.2:g.66087747T>C	GRCh38
NC_000007.13:g.65552734T>C , CM000669.1:g.65552734T>C	GRCh37
NC_000007.12:g.65190169T>C	NCBI36
NG_009288.1:g.16959T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000048.4:c.674T>C MANE Select	NP_000039.2:p.Ile225Thr
ENST00000304874.14:c.674T>C MANE Select	ENSP00000307188.9:p.Ile225Thr
NM_000048.3:c.674T>C	NP_000039.2:p.Ile225Thr
NM_001024943.1:c.674T>C	NP_001020114.1:p.Ile225Thr
NM_001024943.2:c.674T>C	NP_001020114.1:p.Ile225Thr
NM_001024944.1:c.674T>C	NP_001020115.1:p.Ile225Thr
NM_001024944.2:c.674T>C	NP_001020115.1:p.Ile225Thr
NM_001024946.1:c.596T>C	NP_001020117.1:p.Ile199Thr
NM_001024946.2:c.596T>C	NP_001020117.1:p.Ile199Thr
ENST00000304874.13:c.674T>C	ENSP00000307188.9:p.Ile225Thr
ENST00000362000.10:c.479T>C	ENSP00000354710.6:p.Ile160Thr
ENST00000362000.9:c.479T>C	ENSP00000354710.5:p.Ile160Thr
ENST00000380839.8:c.596T>C	ENSP00000370219.4:p.Ile199Thr
ENST00000380839.9:c.596T>C	ENSP00000370219.4:p.Ile199Thr
ENST00000395331.3:c.674T>C	ENSP00000378740.3:p.Ile225Thr
ENST00000395331.4:c.674T>C	ENSP00000378740.3:p.Ile225Thr
ENST00000395332.7:c.674T>C	ENSP00000378741.3:p.Ile225Thr
ENST00000395332.8:c.674T>C	ENSP00000378741.3:p.Ile225Thr
ENST00000493708.5:n.55T>C
ENST00000671817.1:c.596T>C	ENSP00000500462.1:p.Ile199Thr
ENST00000672498.1:c.465T>C	ENSP00000500227.1:p.His155=
ENST00000672586.1:n.1433T>C
ENST00000672676.1:n.1698T>C
ENST00000673149.1:n.486T>C
ENST00000673350.1:n.1776T>C
ENST00000673518.1:c.596T>C	ENSP00000499889.1:p.Ile199Thr