Canonical Allele Identifier: CA455449984
Gene: ASL HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.65547435G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082448G>A , CM000669.2:g.66082448G>A GRCh38
NC_000007.13:g.65547435G>A , CM000669.1:g.65547435G>A GRCh37
NC_000007.12:g.65184870G>A NCBI36
NG_009288.1:g.11660G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304874.14:c.288G>A MANE Select ENSP00000307188.9:p.Leu96=
ENST00000362000.10:c.93G>A ENSP00000354710.6:p.Leu31=
ENST00000380839.9:c.288G>A ENSP00000370219.4:p.Leu96=
ENST00000395331.4:c.288G>A ENSP00000378740.3:p.Leu96=
ENST00000395332.8:c.288G>A ENSP00000378741.3:p.Leu96=
ENST00000671817.1:c.288G>A ENSP00000500462.1:p.Leu96=
ENST00000672498.1:c.288G>A ENSP00000500227.1:p.Leu96=
ENST00000672586.1:n.193G>A
ENST00000672676.1:n.458G>A
ENST00000673350.1:n.536G>A
ENST00000673518.1:c.288G>A ENSP00000499889.1:p.Leu96=
ENST00000673594.1:n.137G>A
ENST00000304874.13:c.288G>A ENSP00000307188.9:p.Leu96=
ENST00000362000.9:c.93G>A ENSP00000354710.5:p.Leu31=
ENST00000380839.8:c.288G>A ENSP00000370219.4:p.Leu96=
ENST00000395331.3:c.288G>A ENSP00000378740.3:p.Leu96=
ENST00000395332.7:c.288G>A ENSP00000378741.3:p.Leu96=
ENST00000487982.5:n.354G>A
ENST00000496336.1:n.529G>A
NM_000048.3:c.288G>A NP_000039.2:p.Leu96=
NM_001024943.1:c.288G>A NP_001020114.1:p.Leu96=
NM_001024944.1:c.288G>A NP_001020115.1:p.Leu96=
NM_001024946.1:c.288G>A NP_001020117.1:p.Leu96=
NM_000048.4:c.288G>A MANE Select NP_000039.2:p.Leu96=
NM_001024943.2:c.288G>A NP_001020114.1:p.Leu96=
NM_001024944.2:c.288G>A NP_001020115.1:p.Leu96=
NM_001024946.2:c.288G>A NP_001020117.1:p.Leu96=