Canonical Allele Identifier: CA15486547

Gene: ASL

Linked Data

• ClinVar Variation Id: 675236
• ClinVar RCV Id: RCV000834590 ; RCV001532813
• dbSNP Id: rs313828
• gnomAD v2: 7-65552614-T-C
• gnomAD v3: 7-66087627-T-C
• gnomAD v4: 7-66087627-T-C
• MyVariant Identifiers: chr7:g.65552614T>C (hg19) ; chr7:g.66087627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087627T>C , CM000669.2:g.66087627T>C	GRCh38
NC_000007.13:g.65552614T>C , CM000669.1:g.65552614T>C	GRCh37
NC_000007.12:g.65190049T>C	NCBI36
NG_009288.1:g.16839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.656-102T>C MANE Select	ENSP00000307188.9:n.656-102T>C
ENST00000362000.10:c.461-102T>C	ENSP00000354710.6:n.461-102T>C
ENST00000380839.9:c.578-102T>C	ENSP00000370219.4:n.578-102T>C
ENST00000395331.4:c.656-102T>C	ENSP00000378740.3:n.656-102T>C
ENST00000395332.8:c.656-102T>C	ENSP00000378741.3:n.656-102T>C
ENST00000671817.1:c.578-102T>C	ENSP00000500462.1:n.578-102T>C
ENST00000672498.1:c.447-102T>C	ENSP00000500227.1:n.447-102T>C
ENST00000672586.1:n.1313T>C
ENST00000672676.1:n.1578T>C
ENST00000673149.1:n.468-102T>C
ENST00000673350.1:n.1656T>C
ENST00000673518.1:c.578-102T>C	ENSP00000499889.1:n.578-102T>C
ENST00000673594.1:n.745T>C
ENST00000304874.13:c.656-102T>C	ENSP00000307188.9:n.656-102T>C
ENST00000362000.9:c.461-102T>C	ENSP00000354710.5:n.461-102T>C
ENST00000380839.8:c.578-102T>C	ENSP00000370219.4:n.578-102T>C
ENST00000395331.3:c.656-102T>C	ENSP00000378740.3:n.656-102T>C
ENST00000395332.7:c.656-102T>C	ENSP00000378741.3:n.656-102T>C
NM_000048.3:c.656-102T>C	NP_000039.2:n.656-102T>C
NM_001024943.1:c.656-102T>C	NP_001020114.1:n.656-102T>C
NM_001024944.1:c.656-102T>C	NP_001020115.1:n.656-102T>C
NM_001024946.1:c.578-102T>C	NP_001020117.1:n.578-102T>C
NM_000048.4:c.656-102T>C MANE Select	NP_000039.2:n.656-102T>C
NM_001024943.2:c.656-102T>C	NP_001020114.1:n.656-102T>C
NM_001024944.2:c.656-102T>C	NP_001020115.1:n.656-102T>C
NM_001024946.2:c.578-102T>C	NP_001020117.1:n.578-102T>C