Canonical Allele Identifier: CA349353062

Gene: HOXD13

Linked Data

• dbSNP Id: rs1292266815
• COSMIC: COSM5491512
• MyVariant Identifiers: chr2:g.176958208C>T (hg19) ; chr2:g.176093480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176093480C>T , CM000664.2:g.176093480C>T	GRCh38
NC_000002.11:g.176958208C>T , CM000664.1:g.176958208C>T	GRCh37
NC_000002.10:g.176666454C>T	NCBI36
NG_008137.1:g.5677C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392539.4:c.590C>T MANE Select	ENSP00000376322.3:p.Thr197Met
ENST00000392539.3:c.590C>T	ENSP00000376322.3:p.Thr197Met
NM_000523.3:c.590C>T	NP_000514.2:p.Thr197Met
XM_011511068.1:c.725-1000C>T	XP_011509370.1:n.725-1000C>T
XM_011511068.2:c.725-1000C>T	XP_011509370.1:n.725-1000C>T
NM_000523.4:c.590C>T MANE Select	NP_000514.2:p.Thr197Met