Canonical Allele Identifier: CA349353210
Gene: HOXD13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.176958278C>A (hg19) chr2:g.176093550C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093550C>A , CM000664.2:g.176093550C>A GRCh38
NC_000002.11:g.176958278C>A , CM000664.1:g.176958278C>A GRCh37
NC_000002.10:g.176666524C>A NCBI36
NG_008137.1:g.5747C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.660C>A MANE Select ENSP00000376322.3:p.His220Gln
ENST00000392539.3:c.660C>A ENSP00000376322.3:p.His220Gln
NM_000523.3:c.660C>A NP_000514.2:p.His220Gln
XM_011511068.1:c.725-930C>A XP_011509370.1:n.725-930C>A
XM_011511068.2:c.725-930C>A XP_011509370.1:n.725-930C>A
NM_000523.4:c.660C>A MANE Select NP_000514.2:p.His220Gln
Search 100 bp 5'
Search 100 bp 3'