Canonical Allele Identifier: CA252264

Gene: ASL

Linked Data

• ClinVar Variation Id: 2402
• ClinVar RCV Id: RCV000002503 ; RCV000723377
• dbSNP Id: rs28941473
• ExAC: 7:65551738 G / A
• gnomAD v2: 7-65551738-G-A
• gnomAD v3: 7-66086751-G-A
• gnomAD v4: 7-66086751-G-A
• MyVariant Identifiers: chr7:g.65551738G>A (hg19) ; chr7:g.66086751G>A (hg38)
• PubMed: PMID:12384776 ; PMID:12408190 ; PMID:21667091 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086751G>A , CM000669.2:g.66086751G>A	GRCh38
NC_000007.13:g.65551738G>A , CM000669.1:g.65551738G>A	GRCh37
NC_000007.12:g.65189173G>A	NCBI36
NG_009288.1:g.15963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.532G>A MANE Select	ENSP00000307188.9:p.Val178Met
ENST00000362000.10:c.337G>A	ENSP00000354710.6:p.Val113Met
ENST00000380839.9:c.524+89G>A	ENSP00000370219.4:n.524+89G>A
ENST00000395331.4:c.532G>A	ENSP00000378740.3:p.Val178Met
ENST00000395332.8:c.532G>A	ENSP00000378741.3:p.Val178Met
ENST00000671817.1:c.524+89G>A	ENSP00000500462.1:n.524+89G>A
ENST00000672498.1:c.447-978G>A	ENSP00000500227.1:n.447-978G>A
ENST00000672586.1:n.437G>A
ENST00000672676.1:n.702G>A
ENST00000673149.1:n.344G>A
ENST00000673350.1:n.780G>A
ENST00000673518.1:c.524+89G>A	ENSP00000499889.1:n.524+89G>A
ENST00000673594.1:n.381G>A
ENST00000304874.13:c.532G>A	ENSP00000307188.9:p.Val178Met
ENST00000362000.9:c.337G>A	ENSP00000354710.5:p.Val113Met
ENST00000380839.8:c.524+89G>A	ENSP00000370219.4:n.524+89G>A
ENST00000395331.3:c.532G>A	ENSP00000378740.3:p.Val178Met
ENST00000395332.7:c.532G>A	ENSP00000378741.3:p.Val178Met
ENST00000487982.5:n.598G>A
NM_000048.3:c.532G>A	NP_000039.2:p.Val178Met
NM_001024943.1:c.532G>A	NP_001020114.1:p.Val178Met
NM_001024944.1:c.532G>A	NP_001020115.1:p.Val178Met
NM_001024946.1:c.524+89G>A	NP_001020117.1:n.524+89G>A
NM_000048.4:c.532G>A MANE Select	NP_000039.2:p.Val178Met
NM_001024943.2:c.532G>A	NP_001020114.1:p.Val178Met
NM_001024944.2:c.532G>A	NP_001020115.1:p.Val178Met
NM_001024946.2:c.524+89G>A	NP_001020117.1:n.524+89G>A