Canonical Allele Identifier: CA349353371
Gene: HOXD13 HGNC NCBI

Linked Data

gnomAD v4: 2-176093620-T-A
MyVariant Identifiers: chr2:g.176958348T>A (hg19) chr2:g.176093620T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093620T>A , CM000664.2:g.176093620T>A GRCh38
NC_000002.11:g.176958348T>A , CM000664.1:g.176958348T>A GRCh37
NC_000002.10:g.176666594T>A NCBI36
NG_008137.1:g.5817T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.730T>A MANE Select ENSP00000376322.3:p.Cys244Ser
ENST00000392539.3:c.730T>A ENSP00000376322.3:p.Cys244Ser
NM_000523.3:c.730T>A NP_000514.2:p.Cys244Ser
XM_011511068.1:c.725-860T>A XP_011509370.1:n.725-860T>A
XM_011511068.2:c.725-860T>A XP_011509370.1:n.725-860T>A
NM_000523.4:c.730T>A MANE Select NP_000514.2:p.Cys244Ser
Search 100 bp 5'
Search 100 bp 3'