Canonical Allele Identifier: CA455449971

Gene: ASL

Linked Data

• ClinVar Variation Id: 2821951
• ClinVar RCV Id: RCV003604331
• MyVariant Identifiers: chr7:g.65547414C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082427C>T , CM000669.2:g.66082427C>T	GRCh38
NC_000007.13:g.65547414C>T , CM000669.1:g.65547414C>T	GRCh37
NC_000007.12:g.65184849C>T	NCBI36
NG_009288.1:g.11639C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.267C>T MANE Select	ENSP00000307188.9:p.His89=
ENST00000362000.10:c.72C>T	ENSP00000354710.6:p.His24=
ENST00000380839.9:c.267C>T	ENSP00000370219.4:p.His89=
ENST00000395331.4:c.267C>T	ENSP00000378740.3:p.His89=
ENST00000395332.8:c.267C>T	ENSP00000378741.3:p.His89=
ENST00000671817.1:c.267C>T	ENSP00000500462.1:p.His89=
ENST00000672498.1:c.267C>T	ENSP00000500227.1:p.His89=
ENST00000672586.1:n.172C>T
ENST00000672676.1:n.437C>T
ENST00000673350.1:n.515C>T
ENST00000673518.1:c.267C>T	ENSP00000499889.1:p.His89=
ENST00000673594.1:n.116C>T
ENST00000304874.13:c.267C>T	ENSP00000307188.9:p.His89=
ENST00000362000.9:c.72C>T	ENSP00000354710.5:p.His24=
ENST00000380839.8:c.267C>T	ENSP00000370219.4:p.His89=
ENST00000395331.3:c.267C>T	ENSP00000378740.3:p.His89=
ENST00000395332.7:c.267C>T	ENSP00000378741.3:p.His89=
ENST00000487982.5:n.333C>T
ENST00000496336.1:n.508C>T
NM_000048.3:c.267C>T	NP_000039.2:p.His89=
NM_001024943.1:c.267C>T	NP_001020114.1:p.His89=
NM_001024944.1:c.267C>T	NP_001020115.1:p.His89=
NM_001024946.1:c.267C>T	NP_001020117.1:p.His89=
NM_000048.4:c.267C>T MANE Select	NP_000039.2:p.His89=
NM_001024943.2:c.267C>T	NP_001020114.1:p.His89=
NM_001024944.2:c.267C>T	NP_001020115.1:p.His89=
NM_001024946.2:c.267C>T	NP_001020117.1:p.His89=