Canonical Allele Identifier: CA574858127

Gene: ASL

Linked Data

• ClinVar Variation Id: 1991544
• ClinVar RCV Id: RCV002771639
• dbSNP Id: rs1439477217
• gnomAD v2: 7-65547441-A-G
• gnomAD v4: 7-66082454-A-G
• MyVariant Identifiers: chr7:g.65547441A>G (hg19) ; chr7:g.66082454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082454A>G , CM000669.2:g.66082454A>G	GRCh38
NC_000007.13:g.65547441A>G , CM000669.1:g.65547441A>G	GRCh37
NC_000007.12:g.65184876A>G	NCBI36
NG_009288.1:g.11666A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.291+3A>G MANE Select	ENSP00000307188.9:n.291+3A>G
ENST00000362000.10:c.96+3A>G	ENSP00000354710.6:n.96+3A>G
ENST00000380839.9:c.291+3A>G	ENSP00000370219.4:n.291+3A>G
ENST00000395331.4:c.291+3A>G	ENSP00000378740.3:n.291+3A>G
ENST00000395332.8:c.291+3A>G	ENSP00000378741.3:n.291+3A>G
ENST00000671817.1:c.291+3A>G	ENSP00000500462.1:n.291+3A>G
ENST00000672498.1:c.291+3A>G	ENSP00000500227.1:n.291+3A>G
ENST00000672586.1:n.196+3A>G
ENST00000672676.1:n.461+3A>G
ENST00000673350.1:n.539+3A>G
ENST00000673518.1:c.291+3A>G	ENSP00000499889.1:n.291+3A>G
ENST00000673594.1:n.140+3A>G
ENST00000304874.13:c.291+3A>G	ENSP00000307188.9:n.291+3A>G
ENST00000362000.9:c.96+3A>G	ENSP00000354710.5:n.96+3A>G
ENST00000380839.8:c.291+3A>G	ENSP00000370219.4:n.291+3A>G
ENST00000395331.3:c.291+3A>G	ENSP00000378740.3:n.291+3A>G
ENST00000395332.7:c.291+3A>G	ENSP00000378741.3:n.291+3A>G
ENST00000487982.5:n.357+3A>G
ENST00000496336.1:n.532+3A>G
NM_000048.3:c.291+3A>G	NP_000039.2:n.291+3A>G
NM_001024943.1:c.291+3A>G	NP_001020114.1:n.291+3A>G
NM_001024944.1:c.291+3A>G	NP_001020115.1:n.291+3A>G
NM_001024946.1:c.291+3A>G	NP_001020117.1:n.291+3A>G
NM_000048.4:c.291+3A>G MANE Select	NP_000039.2:n.291+3A>G
NM_001024943.2:c.291+3A>G	NP_001020114.1:n.291+3A>G
NM_001024944.2:c.291+3A>G	NP_001020115.1:n.291+3A>G
NM_001024946.2:c.291+3A>G	NP_001020117.1:n.291+3A>G