Canonical Allele Identifier: CA4276824
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs757952889
gnomAD v2: 7-65546866-A-C
gnomAD v3: 7-66081879-A-C
gnomAD v4: 7-66081879-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66081879A>C , CM000669.2:g.66081879A>C GRCh38
NC_000007.13:g.65546866A>C , CM000669.1:g.65546866A>C GRCh37
NC_000007.12:g.65184301A>C NCBI36
NG_009288.1:g.11091A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.89A>C MANE Select ENSP00000307188.9:p.Tyr30Ser
ENST00000362000.10:c.13-489A>C ENSP00000354710.6:n.13-489A>C
ENST00000380839.9:c.89A>C ENSP00000370219.4:p.Tyr30Ser
ENST00000395331.4:c.89A>C ENSP00000378740.3:p.Tyr30Ser
ENST00000395332.8:c.89A>C ENSP00000378741.3:p.Tyr30Ser
ENST00000671817.1:c.89A>C ENSP00000500462.1:p.Tyr30Ser
ENST00000672498.1:c.89A>C ENSP00000500227.1:p.Tyr30Ser
ENST00000672586.1:n.113-489A>C
ENST00000672676.1:n.259A>C
ENST00000673350.1:n.337A>C
ENST00000673518.1:c.89A>C ENSP00000499889.1:p.Tyr30Ser
ENST00000304874.13:c.89A>C ENSP00000307188.9:p.Tyr30Ser
ENST00000362000.9:c.13-489A>C ENSP00000354710.5:n.13-489A>C
ENST00000380839.8:c.89A>C ENSP00000370219.4:p.Tyr30Ser
ENST00000395331.3:c.89A>C ENSP00000378740.3:p.Tyr30Ser
ENST00000395332.7:c.89A>C ENSP00000378741.3:p.Tyr30Ser
ENST00000487982.5:n.155A>C
ENST00000496336.1:n.330A>C
NM_000048.3:c.89A>C NP_000039.2:p.Tyr30Ser
NM_001024943.1:c.89A>C NP_001020114.1:p.Tyr30Ser
NM_001024944.1:c.89A>C NP_001020115.1:p.Tyr30Ser
NM_001024946.1:c.89A>C NP_001020117.1:p.Tyr30Ser
NM_000048.4:c.89A>C MANE Select NP_000039.2:p.Tyr30Ser
NM_001024943.2:c.89A>C NP_001020114.1:p.Tyr30Ser
NM_001024944.2:c.89A>C NP_001020115.1:p.Tyr30Ser
NM_001024946.2:c.89A>C NP_001020117.1:p.Tyr30Ser