Canonical Allele Identifier: CA367652471
Gene: ASL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092775T>C , CM000669.2:g.66092775T>C GRCh38
NC_000007.13:g.65557762T>C , CM000669.1:g.65557762T>C GRCh37
NC_000007.12:g.65195197T>C NCBI36
NG_009288.1:g.21987T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1258T>C MANE Select ENSP00000307188.9:p.Phe420Leu
ENST00000362000.10:c.1063T>C ENSP00000354710.6:p.Phe355Leu
ENST00000380839.9:c.1180T>C ENSP00000370219.4:p.Phe394Leu
ENST00000395331.4:c.1198T>C ENSP00000378740.3:p.Phe400Leu
ENST00000395332.8:c.1258T>C ENSP00000378741.3:p.Phe420Leu
ENST00000488343.2:c.148-129T>C ENSP00000500864.1:n.148-129T>C
ENST00000672498.1:c.*661T>C ENSP00000500227.1:n.*661T>C
ENST00000672586.1:n.2017T>C
ENST00000672676.1:n.2282T>C
ENST00000673149.1:n.1070T>C
ENST00000673350.1:n.3375T>C
ENST00000673518.1:c.1180T>C ENSP00000499889.1:p.Phe394Leu
ENST00000304874.13:c.1258T>C ENSP00000307188.9:p.Phe420Leu
ENST00000380839.8:c.1180T>C ENSP00000370219.4:p.Phe394Leu
ENST00000395331.3:c.1198T>C ENSP00000378740.3:p.Phe400Leu
ENST00000395332.7:c.1258T>C ENSP00000378741.3:p.Phe420Leu
ENST00000450043.2:c.563+112T>C ENSP00000396527.2:n.563+112T>C
ENST00000464970.1:n.461T>C
ENST00000488343.1:n.148-129T>C
ENST00000493708.5:n.739T>C
NM_000048.3:c.1258T>C NP_000039.2:p.Phe420Leu
NM_001024943.1:c.1258T>C NP_001020114.1:p.Phe420Leu
NM_001024944.1:c.1198T>C NP_001020115.1:p.Phe400Leu
NM_001024946.1:c.1180T>C NP_001020117.1:p.Phe394Leu
NM_000048.4:c.1258T>C MANE Select NP_000039.2:p.Phe420Leu
NM_001024943.2:c.1258T>C NP_001020114.1:p.Phe420Leu
NM_001024944.2:c.1198T>C NP_001020115.1:p.Phe400Leu
NM_001024946.2:c.1180T>C NP_001020117.1:p.Phe394Leu