Canonical Allele Identifier: CA4277000

Gene: ASL

Linked Data

• ClinVar Variation Id: 1573364
• ClinVar RCV Id: RCV002215988
• dbSNP Id: rs150557376
• ExAC: 7:65551734 C / T
• gnomAD v2: 7-65551734-C-T
• gnomAD v3: 7-66086747-C-T
• gnomAD v4: 7-66086747-C-T
• COSMIC: COSM3431728
• MyVariant Identifiers: chr7:g.65551734C>T (hg19) ; chr7:g.66086747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086747C>T , CM000669.2:g.66086747C>T	GRCh38
NC_000007.13:g.65551734C>T , CM000669.1:g.65551734C>T	GRCh37
NC_000007.12:g.65189169C>T	NCBI36
NG_009288.1:g.15959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.528C>T MANE Select	ENSP00000307188.9:p.His176=
ENST00000362000.10:c.333C>T	ENSP00000354710.6:p.His111=
ENST00000380839.9:c.524+85C>T	ENSP00000370219.4:n.524+85C>T
ENST00000395331.4:c.528C>T	ENSP00000378740.3:p.His176=
ENST00000395332.8:c.528C>T	ENSP00000378741.3:p.His176=
ENST00000671817.1:c.524+85C>T	ENSP00000500462.1:n.524+85C>T
ENST00000672498.1:c.447-982C>T	ENSP00000500227.1:n.447-982C>T
ENST00000672586.1:n.433C>T
ENST00000672676.1:n.698C>T
ENST00000673149.1:n.340C>T
ENST00000673350.1:n.776C>T
ENST00000673518.1:c.524+85C>T	ENSP00000499889.1:n.524+85C>T
ENST00000673594.1:n.377C>T
ENST00000304874.13:c.528C>T	ENSP00000307188.9:p.His176=
ENST00000362000.9:c.333C>T	ENSP00000354710.5:p.His111=
ENST00000380839.8:c.524+85C>T	ENSP00000370219.4:n.524+85C>T
ENST00000395331.3:c.528C>T	ENSP00000378740.3:p.His176=
ENST00000395332.7:c.528C>T	ENSP00000378741.3:p.His176=
ENST00000487982.5:n.594C>T
NM_000048.3:c.528C>T	NP_000039.2:p.His176=
NM_001024943.1:c.528C>T	NP_001020114.1:p.His176=
NM_001024944.1:c.528C>T	NP_001020115.1:p.His176=
NM_001024946.1:c.524+85C>T	NP_001020117.1:n.524+85C>T
NM_000048.4:c.528C>T MANE Select	NP_000039.2:p.His176=
NM_001024943.2:c.528C>T	NP_001020114.1:p.His176=
NM_001024944.2:c.528C>T	NP_001020115.1:p.His176=
NM_001024946.2:c.524+85C>T	NP_001020117.1:n.524+85C>T