Canonical Allele Identifier: CA430224620
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1315402776
gnomAD v4: 2-176093538-G-A
MyVariant Identifiers: chr2:g.176958266G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093538G>A , CM000664.2:g.176093538G>A GRCh38
NC_000002.11:g.176958266G>A , CM000664.1:g.176958266G>A GRCh37
NC_000002.10:g.176666512G>A NCBI36
NG_008137.1:g.5735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.648G>A MANE Select ENSP00000376322.3:p.Gly216=
ENST00000392539.3:c.648G>A ENSP00000376322.3:p.Gly216=
NM_000523.3:c.648G>A NP_000514.2:p.Gly216=
XM_011511068.1:c.725-942G>A XP_011509370.1:n.725-942G>A
XM_011511068.2:c.725-942G>A XP_011509370.1:n.725-942G>A
NM_000523.4:c.648G>A MANE Select NP_000514.2:p.Gly216=
Search 100 bp 5'
Search 100 bp 3'