Canonical Allele Identifier: CA349353166
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs2105379139
gnomAD v4: 2-176093529-C-G
MyVariant Identifiers: chr2:g.176958257C>G (hg19) chr2:g.176093529C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093529C>G , CM000664.2:g.176093529C>G GRCh38
NC_000002.11:g.176958257C>G , CM000664.1:g.176958257C>G GRCh37
NC_000002.10:g.176666503C>G NCBI36
NG_008137.1:g.5726C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.639C>G MANE Select ENSP00000376322.3:p.Phe213Leu
ENST00000392539.3:c.639C>G ENSP00000376322.3:p.Phe213Leu
NM_000523.3:c.639C>G NP_000514.2:p.Phe213Leu
XM_011511068.1:c.725-951C>G XP_011509370.1:n.725-951C>G
XM_011511068.2:c.725-951C>G XP_011509370.1:n.725-951C>G
NM_000523.4:c.639C>G MANE Select NP_000514.2:p.Phe213Leu
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