Canonical Allele Identifier: CA349353099
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1409930133
gnomAD v4: 2-176093497-G-C
MyVariant Identifiers: chr2:g.176958225G>C (hg19) chr2:g.176093497G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.607G>C MANE Select ENSP00000376322.3:p.Val203Leu
ENST00000392539.3:c.607G>C ENSP00000376322.3:p.Val203Leu
NM_000523.3:c.607G>C NP_000514.2:p.Val203Leu
XM_011511068.1:c.725-983G>C XP_011509370.1:n.725-983G>C
XM_011511068.2:c.725-983G>C XP_011509370.1:n.725-983G>C
NM_000523.4:c.607G>C MANE Select NP_000514.2:p.Val203Leu
Search 100 bp 5'
Search 100 bp 3'