Canonical Allele Identifier: CA349353198
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs2105379170
gnomAD v4: 2-176093543-C-T
MyVariant Identifiers: chr2:g.176958271C>T (hg19) chr2:g.176093543C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093543C>T , CM000664.2:g.176093543C>T GRCh38
NC_000002.11:g.176958271C>T , CM000664.1:g.176958271C>T GRCh37
NC_000002.10:g.176666517C>T NCBI36
NG_008137.1:g.5740C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.653C>T MANE Select ENSP00000376322.3:p.Pro218Leu
ENST00000392539.3:c.653C>T ENSP00000376322.3:p.Pro218Leu
NM_000523.3:c.653C>T NP_000514.2:p.Pro218Leu
XM_011511068.1:c.725-937C>T XP_011509370.1:n.725-937C>T
XM_011511068.2:c.725-937C>T XP_011509370.1:n.725-937C>T
NM_000523.4:c.653C>T MANE Select NP_000514.2:p.Pro218Leu
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