Canonical Allele Identifier: CA249106
Gene: HOXD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 218457
ClinVar RCV Id: RCV000202911 RCV002057040 RCV003937761
dbSNP Id: rs200067774
ExAC: 2:176958118 A / G
gnomAD v2: 2-176958118-A-G
gnomAD v3: 2-176093390-A-G
gnomAD v4: 2-176093390-A-G
MyVariant Identifiers: chr2:g.176958118A>G (hg19) chr2:g.176093390A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093390A>G , CM000664.2:g.176093390A>G GRCh38
NC_000002.11:g.176958118A>G , CM000664.1:g.176958118A>G GRCh37
NC_000002.10:g.176666364A>G NCBI36
NG_008137.1:g.5587A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392539.4:c.500A>G MANE Select ENSP00000376322.3:p.Tyr167Cys
ENST00000392539.3:c.500A>G ENSP00000376322.3:p.Tyr167Cys
NM_000523.3:c.500A>G NP_000514.2:p.Tyr167Cys
XM_011511068.1:c.725-1090A>G XP_011509370.1:n.725-1090A>G
XM_011511068.2:c.725-1090A>G XP_011509370.1:n.725-1090A>G
NM_000523.4:c.500A>G MANE Select NP_000514.2:p.Tyr167Cys
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