Canonical Allele Identifier: CA349353098
Gene: HOXD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2795109
ClinVar RCV Id: RCV003675237
dbSNP Id: rs1409930133
gnomAD v2: 2-176958225-G-A
gnomAD v4: 2-176093497-G-A
MyVariant Identifiers: chr2:g.176958225G>A (hg19) chr2:g.176093497G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093497G>A , CM000664.2:g.176093497G>A GRCh38
NC_000002.11:g.176958225G>A , CM000664.1:g.176958225G>A GRCh37
NC_000002.10:g.176666471G>A NCBI36
NG_008137.1:g.5694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.607G>A MANE Select ENSP00000376322.3:p.Val203Met
ENST00000392539.3:c.607G>A ENSP00000376322.3:p.Val203Met
NM_000523.3:c.607G>A NP_000514.2:p.Val203Met
XM_011511068.1:c.725-983G>A XP_011509370.1:n.725-983G>A
XM_011511068.2:c.725-983G>A XP_011509370.1:n.725-983G>A
NM_000523.4:c.607G>A MANE Select NP_000514.2:p.Val203Met
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