Canonical Allele Identifier: CA367639296
Gene: ASL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66083090T>C , CM000669.2:g.66083090T>C GRCh38
NC_000007.13:g.65548077T>C , CM000669.1:g.65548077T>C GRCh37
NC_000007.12:g.65185512T>C NCBI36
NG_009288.1:g.12302T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.362T>C MANE Select ENSP00000307188.9:p.Leu121Pro
ENST00000362000.10:c.167T>C ENSP00000354710.6:p.Leu56Pro
ENST00000380839.9:c.362T>C ENSP00000370219.4:p.Leu121Pro
ENST00000395331.4:c.362T>C ENSP00000378740.3:p.Leu121Pro
ENST00000395332.8:c.362T>C ENSP00000378741.3:p.Leu121Pro
ENST00000671817.1:c.362T>C ENSP00000500462.1:p.Leu121Pro
ENST00000672498.1:c.362T>C ENSP00000500227.1:p.Leu121Pro
ENST00000672586.1:n.267T>C
ENST00000672676.1:n.532T>C
ENST00000673149.1:n.174T>C
ENST00000673350.1:n.610T>C
ENST00000673518.1:c.362T>C ENSP00000499889.1:p.Leu121Pro
ENST00000673594.1:n.211T>C
ENST00000304874.13:c.362T>C ENSP00000307188.9:p.Leu121Pro
ENST00000362000.9:c.167T>C ENSP00000354710.5:p.Leu56Pro
ENST00000380839.8:c.362T>C ENSP00000370219.4:p.Leu121Pro
ENST00000395331.3:c.362T>C ENSP00000378740.3:p.Leu121Pro
ENST00000395332.7:c.362T>C ENSP00000378741.3:p.Leu121Pro
ENST00000487982.5:n.428T>C
ENST00000496336.1:n.743T>C
NM_000048.3:c.362T>C NP_000039.2:p.Leu121Pro
NM_001024943.1:c.362T>C NP_001020114.1:p.Leu121Pro
NM_001024944.1:c.362T>C NP_001020115.1:p.Leu121Pro
NM_001024946.1:c.362T>C NP_001020117.1:p.Leu121Pro
NM_000048.4:c.362T>C MANE Select NP_000039.2:p.Leu121Pro
NM_001024943.2:c.362T>C NP_001020114.1:p.Leu121Pro
NM_001024944.2:c.362T>C NP_001020115.1:p.Leu121Pro
NM_001024946.2:c.362T>C NP_001020117.1:p.Leu121Pro