Canonical Allele Identifier: CA430224606
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs2105379113
MyVariant Identifiers: chr2:g.176958248G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093520G>C , CM000664.2:g.176093520G>C GRCh38
NC_000002.11:g.176958248G>C , CM000664.1:g.176958248G>C GRCh37
NC_000002.10:g.176666494G>C NCBI36
NG_008137.1:g.5717G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.630G>C MANE Select ENSP00000376322.3:p.Val210=
ENST00000392539.3:c.630G>C ENSP00000376322.3:p.Val210=
NM_000523.3:c.630G>C NP_000514.2:p.Val210=
XM_011511068.1:c.725-960G>C XP_011509370.1:n.725-960G>C
XM_011511068.2:c.725-960G>C XP_011509370.1:n.725-960G>C
NM_000523.4:c.630G>C MANE Select NP_000514.2:p.Val210=