Canonical Allele Identifier: CA1713923196
Community Standard Title: NM_000048.4(ASL):c.839G= (p.Gly280=)
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089096G= , CM000669.2:g.66089096G= GRCh38
NC_000007.13:g.65554083G= , CM000669.1:g.65554083G= GRCh37
NC_000007.12:g.65191518G= NCBI36
NG_009288.1:g.18308G=

Transcript Alleles

HGVS Amino-acid Change
NM_000048.4:c.839G= MANE Select NP_000039.2:p.Gly280=
ENST00000304874.14:c.839G= MANE Select ENSP00000307188.9:p.Gly280=
NM_000048.3:c.839G= NP_000039.2:p.Gly280=
NM_001024943.1:c.839G= NP_001020114.1:p.Gly280=
NM_001024943.2:c.839G= NP_001020114.1:p.Gly280=
NM_001024944.1:c.839G= NP_001020115.1:p.Gly280=
NM_001024944.2:c.839G= NP_001020115.1:p.Gly280=
NM_001024946.1:c.761G= NP_001020117.1:p.Gly254=
NM_001024946.2:c.761G= NP_001020117.1:p.Gly254=
ENST00000304874.13:c.839G= ENSP00000307188.9:p.Gly280=
ENST00000362000.10:c.644G= ENSP00000354710.6:p.Gly215=
ENST00000362000.9:c.644G= ENSP00000354710.5:p.Gly215=
ENST00000380839.8:c.761G= ENSP00000370219.4:p.Gly254=
ENST00000380839.9:c.761G= ENSP00000370219.4:p.Gly254=
ENST00000395331.3:c.839G= ENSP00000378740.3:p.Gly280=
ENST00000395331.4:c.839G= ENSP00000378740.3:p.Gly280=
ENST00000395332.7:c.839G= ENSP00000378741.3:p.Gly280=
ENST00000395332.8:c.839G= ENSP00000378741.3:p.Gly280=
ENST00000450043.2:c.152G= ENSP00000396527.2:p.Gly51=
ENST00000488343.1:n.8G=
ENST00000488343.2:c.8G= ENSP00000500864.1:p.Gly3=
ENST00000493708.5:n.220G=
ENST00000671817.1:c.761G= ENSP00000500462.1:p.Gly254=
ENST00000672498.1:c.*138G= ENSP00000500227.1:n.*138G=
ENST00000672586.1:n.1598G=
ENST00000672676.1:n.1863G=
ENST00000673149.1:n.651G=
ENST00000673350.1:n.2956G=
ENST00000673518.1:c.761G= ENSP00000499889.1:p.Gly254=