Canonical Allele Identifier: CA349353220

Gene: HOXD13

Linked Data

• dbSNP Id: rs1219788050
• gnomAD v2: 2-176958282-G-A
• gnomAD v4: 2-176093554-G-A
• COSMIC: COSM1009836 ; COSM1009837
• MyVariant Identifiers: chr2:g.176958282G>A (hg19) ; chr2:g.176093554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176093554G>A , CM000664.2:g.176093554G>A	GRCh38
NC_000002.11:g.176958282G>A , CM000664.1:g.176958282G>A	GRCh37
NC_000002.10:g.176666528G>A	NCBI36
NG_008137.1:g.5751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392539.4:c.664G>A MANE Select	ENSP00000376322.3:p.Ala222Thr
ENST00000392539.3:c.664G>A	ENSP00000376322.3:p.Ala222Thr
NM_000523.3:c.664G>A	NP_000514.2:p.Ala222Thr
XM_011511068.1:c.725-926G>A	XP_011509370.1:n.725-926G>A
XM_011511068.2:c.725-926G>A	XP_011509370.1:n.725-926G>A
NM_000523.4:c.664G>A MANE Select	NP_000514.2:p.Ala222Thr