Canonical Allele Identifier: CA159943275
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66093198T>A , CM000669.2:g.66093198T>A GRCh38
NC_000007.13:g.65558185T>A , CM000669.1:g.65558185T>A GRCh37
NC_000007.12:g.65195620T>A NCBI36
NG_009288.1:g.22410T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.*286T>A MANE Select ENSP00000307188.9:n.*286T>A
ENST00000380839.9:c.*286T>A ENSP00000370219.4:n.*286T>A
ENST00000672498.1:c.*1084T>A ENSP00000500227.1:n.*1084T>A
ENST00000304874.13:c.*286T>A ENSP00000307188.9:n.*286T>A
ENST00000450043.2:c.563+535T>A ENSP00000396527.2:n.563+535T>A
NM_000048.3:c.*286T>A NP_000039.2:n.*286T>A
NM_001024943.1:c.*286T>A NP_001020114.1:n.*286T>A
NM_001024944.1:c.*286T>A NP_001020115.1:n.*286T>A
NM_001024946.1:c.*286T>A NP_001020117.1:n.*286T>A
NM_000048.4:c.*286T>A MANE Select NP_000039.2:n.*286T>A
NM_001024943.2:c.*286T>A NP_001020114.1:n.*286T>A
NM_001024944.2:c.*286T>A NP_001020115.1:n.*286T>A
NM_001024946.2:c.*286T>A NP_001020117.1:n.*286T>A