Canonical Allele Identifier: CA116982

Gene: ALX3 STRIP1

Linked Data

• ClinVar Variation Id: 4645
• ClinVar RCV Id: RCV000004908
• dbSNP Id: rs121908168
• ExAC: 1:110607256 G / A
• gnomAD v2: 1-110607256-G-A
• gnomAD v4: 1-110064634-G-A
• MyVariant Identifiers: chr1:g.110607256G>A (hg19) ; chr1:g.110064634G>A (hg38)
• PubMed: PMID:19409524

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110064634G>A , CM000663.2:g.110064634G>A	GRCh38
NC_000001.10:g.110607256G>A , CM000663.1:g.110607256G>A	GRCh37
NC_000001.9:g.110408779G>A	NCBI36
NG_012039.1:g.11067C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647563.2:c.547C>T (ALX3) MANE Select	ENSP00000497310.1:p.Arg183Trp
ENST00000649954.1:c.118C>T (ALX3)	ENSP00000497035.1:p.Arg40Trp
ENST00000369792.4:c.547C>T (ALX3)	ENSP00000358807.3:p.Arg183Trp
ENST00000473429.5:n.4214-7821G>A (STRIP1)
NM_006492.2:c.547C>T (ALX3)	NP_006483.2:p.Arg183Trp
NM_006492.3:c.547C>T (ALX3) MANE Select	NP_006483.2:p.Arg183Trp