Canonical Allele Identifier: CA349353041
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1689361558
gnomAD v4: 2-176093471-A-G
MyVariant Identifiers: chr2:g.176958199A>G (hg19) chr2:g.176093471A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093471A>G , CM000664.2:g.176093471A>G GRCh38
NC_000002.11:g.176958199A>G , CM000664.1:g.176958199A>G GRCh37
NC_000002.10:g.176666445A>G NCBI36
NG_008137.1:g.5668A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.581A>G MANE Select ENSP00000376322.3:p.Gln194Arg
ENST00000392539.3:c.581A>G ENSP00000376322.3:p.Gln194Arg
NM_000523.3:c.581A>G NP_000514.2:p.Gln194Arg
XM_011511068.1:c.725-1009A>G XP_011509370.1:n.725-1009A>G
XM_011511068.2:c.725-1009A>G XP_011509370.1:n.725-1009A>G
NM_000523.4:c.581A>G MANE Select NP_000514.2:p.Gln194Arg
Search 100 bp 5'
Search 100 bp 3'