Canonical Allele Identifier: CA1976643
Gene: HOXD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 3019059
ClinVar RCV Id: RCV003871690
dbSNP Id: rs577016423
ExAC: 2:176958304 A / G
gnomAD v2: 2-176958304-A-G
gnomAD v3: 2-176093576-A-G
gnomAD v4: 2-176093576-A-G
MyVariant Identifiers: chr2:g.176958304A>G (hg19) chr2:g.176093576A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093576A>G , CM000664.2:g.176093576A>G GRCh38
NC_000002.11:g.176958304A>G , CM000664.1:g.176958304A>G GRCh37
NC_000002.10:g.176666550A>G NCBI36
NG_008137.1:g.5773A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.686A>G MANE Select ENSP00000376322.3:p.Tyr229Cys
ENST00000392539.3:c.686A>G ENSP00000376322.3:p.Tyr229Cys
NM_000523.3:c.686A>G NP_000514.2:p.Tyr229Cys
XM_011511068.1:c.725-904A>G XP_011509370.1:n.725-904A>G
XM_011511068.2:c.725-904A>G XP_011509370.1:n.725-904A>G
NM_000523.4:c.686A>G MANE Select NP_000514.2:p.Tyr229Cys
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