Canonical Allele Identifier: CA357213
Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 224973
ClinVar RCV Id: RCV000210597
dbSNP Id: rs869312988
gnomAD v4: 7-66086599-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66086599T>C , CM000669.2:g.66086599T>C GRCh38
NC_000007.13:g.65551586T>C , CM000669.1:g.65551586T>C GRCh37
NC_000007.12:g.65189021T>C NCBI36
NG_009288.1:g.15811T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.461T>C MANE Select ENSP00000307188.9:p.Leu154Pro
ENST00000362000.10:c.266T>C ENSP00000354710.6:p.Leu89Pro
ENST00000380839.9:c.461T>C ENSP00000370219.4:p.Leu154Pro
ENST00000395331.4:c.461T>C ENSP00000378740.3:p.Leu154Pro
ENST00000395332.8:c.461T>C ENSP00000378741.3:p.Leu154Pro
ENST00000671817.1:c.461T>C ENSP00000500462.1:p.Leu154Pro
ENST00000672498.1:c.447-1130T>C ENSP00000500227.1:n.447-1130T>C
ENST00000672586.1:n.366T>C
ENST00000672676.1:n.631T>C
ENST00000673149.1:n.273T>C
ENST00000673350.1:n.709T>C
ENST00000673518.1:c.461T>C ENSP00000499889.1:p.Leu154Pro
ENST00000673594.1:n.310T>C
ENST00000304874.13:c.461T>C ENSP00000307188.9:p.Leu154Pro
ENST00000362000.9:c.266T>C ENSP00000354710.5:p.Leu89Pro
ENST00000380839.8:c.461T>C ENSP00000370219.4:p.Leu154Pro
ENST00000395331.3:c.461T>C ENSP00000378740.3:p.Leu154Pro
ENST00000395332.7:c.461T>C ENSP00000378741.3:p.Leu154Pro
ENST00000487982.5:n.527T>C
NM_000048.3:c.461T>C NP_000039.2:p.Leu154Pro
NM_001024943.1:c.461T>C NP_001020114.1:p.Leu154Pro
NM_001024944.1:c.461T>C NP_001020115.1:p.Leu154Pro
NM_001024946.1:c.461T>C NP_001020117.1:p.Leu154Pro
NM_000048.4:c.461T>C MANE Select NP_000039.2:p.Leu154Pro
NM_001024943.2:c.461T>C NP_001020114.1:p.Leu154Pro
NM_001024944.2:c.461T>C NP_001020115.1:p.Leu154Pro
NM_001024946.2:c.461T>C NP_001020117.1:p.Leu154Pro