Canonical Allele Identifier: CA349352900
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1470726856
MyVariant Identifiers: chr2:g.176958130C>A (hg19) chr2:g.176093402C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093402C>A , CM000664.2:g.176093402C>A GRCh38
NC_000002.11:g.176958130C>A , CM000664.1:g.176958130C>A GRCh37
NC_000002.10:g.176666376C>A NCBI36
NG_008137.1:g.5599C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.512C>A MANE Select ENSP00000376322.3:p.Ser171Ter
ENST00000392539.3:c.512C>A ENSP00000376322.3:p.Ser171Ter
NM_000523.3:c.512C>A NP_000514.2:p.Ser171Ter
XM_011511068.1:c.725-1078C>A XP_011509370.1:n.725-1078C>A
XM_011511068.2:c.725-1078C>A XP_011509370.1:n.725-1078C>A
NM_000523.4:c.512C>A MANE Select NP_000514.2:p.Ser171Ter
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