Canonical Allele Identifier: CA430224580
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs2105379003
gnomAD v3: 2-176093475-C-T
gnomAD v4: 2-176093475-C-T
MyVariant Identifiers: chr2:g.176958203C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093475C>T , CM000664.2:g.176093475C>T GRCh38
NC_000002.11:g.176958203C>T , CM000664.1:g.176958203C>T GRCh37
NC_000002.10:g.176666449C>T NCBI36
NG_008137.1:g.5672C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.585C>T MANE Select ENSP00000376322.3:p.Gly195=
ENST00000392539.3:c.585C>T ENSP00000376322.3:p.Gly195=
NM_000523.3:c.585C>T NP_000514.2:p.Gly195=
XM_011511068.1:c.725-1005C>T XP_011509370.1:n.725-1005C>T
XM_011511068.2:c.725-1005C>T XP_011509370.1:n.725-1005C>T
NM_000523.4:c.585C>T MANE Select NP_000514.2:p.Gly195=
Search 100 bp 5'
Search 100 bp 3'