Canonical Allele Identifier: CA429991680
Gene: HOXD13 HGNC NCBI

Linked Data

gnomAD v4: 2-176093577-C-T
MyVariant Identifiers: chr2:g.176958305C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093577C>T , CM000664.2:g.176093577C>T GRCh38
NC_000002.11:g.176958305C>T , CM000664.1:g.176958305C>T GRCh37
NC_000002.10:g.176666551C>T NCBI36
NG_008137.1:g.5774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.687C>T MANE Select ENSP00000376322.3:p.Tyr229=
ENST00000392539.3:c.687C>T ENSP00000376322.3:p.Tyr229=
NM_000523.3:c.687C>T NP_000514.2:p.Tyr229=
XM_011511068.1:c.725-903C>T XP_011509370.1:n.725-903C>T
XM_011511068.2:c.725-903C>T XP_011509370.1:n.725-903C>T
NM_000523.4:c.687C>T MANE Select NP_000514.2:p.Tyr229=
Search 100 bp 5'
Search 100 bp 3'