Canonical Allele Identifier: CA367652531
Gene: ASL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092781G>A , CM000669.2:g.66092781G>A GRCh38
NC_000007.13:g.65557768G>A , CM000669.1:g.65557768G>A GRCh37
NC_000007.12:g.65195203G>A NCBI36
NG_009288.1:g.21993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1264G>A MANE Select ENSP00000307188.9:p.Gly422Ser
ENST00000362000.10:c.1069G>A ENSP00000354710.6:p.Gly357Ser
ENST00000380839.9:c.1186G>A ENSP00000370219.4:p.Gly396Ser
ENST00000395331.4:c.1204G>A ENSP00000378740.3:p.Gly402Ser
ENST00000395332.8:c.1264G>A ENSP00000378741.3:p.Gly422Ser
ENST00000488343.2:c.148-123G>A ENSP00000500864.1:n.148-123G>A
ENST00000672498.1:c.*667G>A ENSP00000500227.1:n.*667G>A
ENST00000672586.1:n.2023G>A
ENST00000672676.1:n.2288G>A
ENST00000673149.1:n.1076G>A
ENST00000673350.1:n.3381G>A
ENST00000673518.1:c.1186G>A ENSP00000499889.1:p.Gly396Ser
ENST00000304874.13:c.1264G>A ENSP00000307188.9:p.Gly422Ser
ENST00000380839.8:c.1186G>A ENSP00000370219.4:p.Gly396Ser
ENST00000395331.3:c.1204G>A ENSP00000378740.3:p.Gly402Ser
ENST00000395332.7:c.1264G>A ENSP00000378741.3:p.Gly422Ser
ENST00000450043.2:c.563+118G>A ENSP00000396527.2:n.563+118G>A
ENST00000464970.1:n.467G>A
ENST00000488343.1:n.148-123G>A
ENST00000493708.5:n.745G>A
NM_000048.3:c.1264G>A NP_000039.2:p.Gly422Ser
NM_001024943.1:c.1264G>A NP_001020114.1:p.Gly422Ser
NM_001024944.1:c.1204G>A NP_001020115.1:p.Gly402Ser
NM_001024946.1:c.1186G>A NP_001020117.1:p.Gly396Ser
NM_000048.4:c.1264G>A MANE Select NP_000039.2:p.Gly422Ser
NM_001024943.2:c.1264G>A NP_001020114.1:p.Gly422Ser
NM_001024944.2:c.1204G>A NP_001020115.1:p.Gly402Ser
NM_001024946.2:c.1186G>A NP_001020117.1:p.Gly396Ser