Canonical Allele Identifier: CA367645384
Community Standard Title: NM_000048.4(ASL):c.834-1G>A
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66089090G>A , CM000669.2:g.66089090G>A GRCh38
NC_000007.13:g.65554077G>A , CM000669.1:g.65554077G>A GRCh37
NC_000007.12:g.65191512G>A NCBI36
NG_009288.1:g.18302G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000048.4:c.834-1G>A MANE Select NP_000039.2:n.834-1G>A
ENST00000304874.14:c.834-1G>A MANE Select ENSP00000307188.9:n.834-1G>A
NM_000048.3:c.834-1G>A NP_000039.2:n.834-1G>A
NM_001024943.1:c.834-1G>A NP_001020114.1:n.834-1G>A
NM_001024943.2:c.834-1G>A NP_001020114.1:n.834-1G>A
NM_001024944.1:c.834-1G>A NP_001020115.1:n.834-1G>A
NM_001024944.2:c.834-1G>A NP_001020115.1:n.834-1G>A
NM_001024946.1:c.756-1G>A NP_001020117.1:n.756-1G>A
NM_001024946.2:c.756-1G>A NP_001020117.1:n.756-1G>A
ENST00000304874.13:c.834-1G>A ENSP00000307188.9:n.834-1G>A
ENST00000362000.10:c.639-1G>A ENSP00000354710.6:n.639-1G>A
ENST00000362000.9:c.639-1G>A ENSP00000354710.5:n.639-1G>A
ENST00000380839.8:c.756-1G>A ENSP00000370219.4:n.756-1G>A
ENST00000380839.9:c.756-1G>A ENSP00000370219.4:n.756-1G>A
ENST00000395331.3:c.834-1G>A ENSP00000378740.3:n.834-1G>A
ENST00000395331.4:c.834-1G>A ENSP00000378740.3:n.834-1G>A
ENST00000395332.7:c.834-1G>A ENSP00000378741.3:n.834-1G>A
ENST00000395332.8:c.834-1G>A ENSP00000378741.3:n.834-1G>A
ENST00000450043.2:c.147-1G>A ENSP00000396527.2:n.147-1G>A
ENST00000488343.1:n.2G>A
ENST00000488343.2:c.3-1G>A ENSP00000500864.1:n.3-1G>A
ENST00000493708.5:n.215-1G>A
ENST00000671817.1:c.756-1G>A ENSP00000500462.1:n.756-1G>A
ENST00000672498.1:c.*133-1G>A ENSP00000500227.1:n.*133-1G>A
ENST00000672586.1:n.1593-1G>A
ENST00000672676.1:n.1858-1G>A
ENST00000673149.1:n.646-1G>A
ENST00000673350.1:n.2951-1G>A
ENST00000673518.1:c.756-1G>A ENSP00000499889.1:n.756-1G>A