Canonical Allele Identifier: CA4277091

Gene: ASL

Linked Data

• ClinVar Variation Id: 529428
• ClinVar RCV Id: RCV000634858
• dbSNP Id: rs571362354
• ExAC: 7:65552712 C / G
• gnomAD v2: 7-65552712-C-G
• gnomAD v3: 7-66087725-C-G
• gnomAD v4: 7-66087725-C-G
• MyVariant Identifiers: chr7:g.65552712C>G (hg19) ; chr7:g.66087725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087725C>G , CM000669.2:g.66087725C>G	GRCh38
NC_000007.13:g.65552712C>G , CM000669.1:g.65552712C>G	GRCh37
NC_000007.12:g.65190147C>G	NCBI36
NG_009288.1:g.16937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.656-4C>G MANE Select	ENSP00000307188.9:n.656-4C>G
ENST00000362000.10:c.461-4C>G	ENSP00000354710.6:n.461-4C>G
ENST00000380839.9:c.578-4C>G	ENSP00000370219.4:n.578-4C>G
ENST00000395331.4:c.656-4C>G	ENSP00000378740.3:n.656-4C>G
ENST00000395332.8:c.656-4C>G	ENSP00000378741.3:n.656-4C>G
ENST00000671817.1:c.578-4C>G	ENSP00000500462.1:n.578-4C>G
ENST00000672498.1:c.447-4C>G	ENSP00000500227.1:n.447-4C>G
ENST00000672586.1:n.1411C>G
ENST00000672676.1:n.1676C>G
ENST00000673149.1:n.468-4C>G
ENST00000673350.1:n.1754C>G
ENST00000673518.1:c.578-4C>G	ENSP00000499889.1:n.578-4C>G
ENST00000304874.13:c.656-4C>G	ENSP00000307188.9:n.656-4C>G
ENST00000362000.9:c.461-4C>G	ENSP00000354710.5:n.461-4C>G
ENST00000380839.8:c.578-4C>G	ENSP00000370219.4:n.578-4C>G
ENST00000395331.3:c.656-4C>G	ENSP00000378740.3:n.656-4C>G
ENST00000395332.7:c.656-4C>G	ENSP00000378741.3:n.656-4C>G
ENST00000493708.5:n.33C>G
NM_000048.3:c.656-4C>G	NP_000039.2:n.656-4C>G
NM_001024943.1:c.656-4C>G	NP_001020114.1:n.656-4C>G
NM_001024944.1:c.656-4C>G	NP_001020115.1:n.656-4C>G
NM_001024946.1:c.578-4C>G	NP_001020117.1:n.578-4C>G
NM_000048.4:c.656-4C>G MANE Select	NP_000039.2:n.656-4C>G
NM_001024943.2:c.656-4C>G	NP_001020114.1:n.656-4C>G
NM_001024944.2:c.656-4C>G	NP_001020115.1:n.656-4C>G
NM_001024946.2:c.578-4C>G	NP_001020117.1:n.578-4C>G