Canonical Allele Identifier: CA1976615
Gene: HOXD13 HGNC NCBI

Linked Data

dbSNP Id: rs756710908
ExAC: 2:176958120 A / G
gnomAD v2: 2-176958120-A-G
gnomAD v3: 2-176093392-A-G
gnomAD v4: 2-176093392-A-G
MyVariant Identifiers: chr2:g.176958120A>G (hg19) chr2:g.176093392A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093392A>G , CM000664.2:g.176093392A>G GRCh38
NC_000002.11:g.176958120A>G , CM000664.1:g.176958120A>G GRCh37
NC_000002.10:g.176666366A>G NCBI36
NG_008137.1:g.5589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.502A>G MANE Select ENSP00000376322.3:p.Met168Val
ENST00000392539.3:c.502A>G ENSP00000376322.3:p.Met168Val
NM_000523.3:c.502A>G NP_000514.2:p.Met168Val
XM_011511068.1:c.725-1088A>G XP_011509370.1:n.725-1088A>G
XM_011511068.2:c.725-1088A>G XP_011509370.1:n.725-1088A>G
NM_000523.4:c.502A>G MANE Select NP_000514.2:p.Met168Val
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