Canonical Allele Identifier: CA341584082
Gene: ALX3 HGNC NCBI
STRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2146917
ClinVar RCV Id: RCV003076922
COSMIC: COSM1470111
MyVariant Identifiers: chr1:g.110607211G>A (hg19) chr1:g.110064589G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064589G>A , CM000663.2:g.110064589G>A GRCh38
NC_000001.10:g.110607211G>A , CM000663.1:g.110607211G>A GRCh37
NC_000001.9:g.110408734G>A NCBI36
NG_012039.1:g.11112C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647563.2:c.592C>T (ALX3) MANE Select ENSP00000497310.1:p.Gln198Ter
ENST00000649954.1:c.163C>T (ALX3) ENSP00000497035.1:p.Gln55Ter
ENST00000369792.4:c.592C>T (ALX3) ENSP00000358807.3:p.Gln198Ter
ENST00000473429.5:n.4214-7866G>A (STRIP1)
NM_006492.2:c.592C>T (ALX3) NP_006483.2:p.Gln198Ter
NM_006492.3:c.592C>T (ALX3) MANE Select NP_006483.2:p.Gln198Ter
Search 100 bp 5'
Search 100 bp 3'