Canonical Allele Identifier: CA341584140
Gene: ALX3 HGNC NCBI
STRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1340833776
gnomAD v2: 1-110607220-C-T
gnomAD v4: 1-110064598-C-T
MyVariant Identifiers: chr1:g.110607220C>T (hg19) chr1:g.110064598C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.110064598C>T , CM000663.2:g.110064598C>T GRCh38
NC_000001.10:g.110607220C>T , CM000663.1:g.110607220C>T GRCh37
NC_000001.9:g.110408743C>T NCBI36
NG_012039.1:g.11103G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647563.2:c.583G>A (ALX3) MANE Select ENSP00000497310.1:p.Ala195Thr
ENST00000649954.1:c.154G>A (ALX3) ENSP00000497035.1:p.Ala52Thr
ENST00000369792.4:c.583G>A (ALX3) ENSP00000358807.3:p.Ala195Thr
ENST00000473429.5:n.4214-7857C>T (STRIP1)
NM_006492.2:c.583G>A (ALX3) NP_006483.2:p.Ala195Thr
NM_006492.3:c.583G>A (ALX3) MANE Select NP_006483.2:p.Ala195Thr
Search 100 bp 5'
Search 100 bp 3'