Canonical Allele Identifier: CA430224558
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs1427988579
gnomAD v4: 2-176093442-A-G
MyVariant Identifiers: chr2:g.176958170A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093442A>G , CM000664.2:g.176093442A>G GRCh38
NC_000002.11:g.176958170A>G , CM000664.1:g.176958170A>G GRCh37
NC_000002.10:g.176666416A>G NCBI36
NG_008137.1:g.5639A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.552A>G MANE Select ENSP00000376322.3:p.Pro184=
ENST00000392539.3:c.552A>G ENSP00000376322.3:p.Pro184=
NM_000523.3:c.552A>G NP_000514.2:p.Pro184=
XM_011511068.1:c.725-1038A>G XP_011509370.1:n.725-1038A>G
XM_011511068.2:c.725-1038A>G XP_011509370.1:n.725-1038A>G
NM_000523.4:c.552A>G MANE Select NP_000514.2:p.Pro184=
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