Canonical Allele Identifier: CA430224591
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1417937283
gnomAD v2: 2-176958224-C-T
gnomAD v4: 2-176093496-C-T
MyVariant Identifiers: chr2:g.176958224C>T (hg19) chr2:g.176093496C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093496C>T , CM000664.2:g.176093496C>T GRCh38
NC_000002.11:g.176958224C>T , CM000664.1:g.176958224C>T GRCh37
NC_000002.10:g.176666470C>T NCBI36
NG_008137.1:g.5693C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.606C>T MANE Select ENSP00000376322.3:p.His202=
ENST00000392539.3:c.606C>T ENSP00000376322.3:p.His202=
NM_000523.3:c.606C>T NP_000514.2:p.His202=
XM_011511068.1:c.725-984C>T XP_011509370.1:n.725-984C>T
XM_011511068.2:c.725-984C>T XP_011509370.1:n.725-984C>T
NM_000523.4:c.606C>T MANE Select NP_000514.2:p.His202=
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