Canonical Allele Identifier: CA430224570
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1449912804
gnomAD v3: 2-176093454-G-A
gnomAD v4: 2-176093454-G-A
MyVariant Identifiers: chr2:g.176958182G>A (hg19) chr2:g.176093454G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093454G>A , CM000664.2:g.176093454G>A GRCh38
NC_000002.11:g.176958182G>A , CM000664.1:g.176958182G>A GRCh37
NC_000002.10:g.176666428G>A NCBI36
NG_008137.1:g.5651G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.564G>A MANE Select ENSP00000376322.3:p.Lys188=
ENST00000392539.3:c.564G>A ENSP00000376322.3:p.Lys188=
NM_000523.3:c.564G>A NP_000514.2:p.Lys188=
XM_011511068.1:c.725-1026G>A XP_011509370.1:n.725-1026G>A
XM_011511068.2:c.725-1026G>A XP_011509370.1:n.725-1026G>A
NM_000523.4:c.564G>A MANE Select NP_000514.2:p.Lys188=
Search 100 bp 5'
Search 100 bp 3'