Canonical Allele Identifier: CA1976546
Gene: HOXD13 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.176093107G>A
GRCh37 chr2:g.176957835G>A
Revel Score:
ENST00000392539 (MANE Select) 0.194
gnomAD v2:
2:176957835 G / A
gnomAD v3:
2:176093107 G / A
gnomAD v4:
chr2-176093107-G-A
Joint Max Group AF 0.00004637 (NFE)
Genomes Max Group AF 0.00001177 (NFE)
Exomes Max Group AF 0.0000472 (NFE)
ClinVar RCV:
RCV001336918
RCV002546800
ClinVar Variation:
1034246
dbSNP:
544449825
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093107G>A , CM000664.2:g.176093107G>A GRCh38
NC_000002.11:g.176957835G>A , CM000664.1:g.176957835G>A GRCh37
NC_000002.10:g.176666081G>A NCBI36
NG_008137.1:g.5304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.217G>A MANE Select ENSP00000376322.3:p.Gly73Ser
ENST00000392539.3:c.217G>A ENSP00000376322.3:p.Gly73Ser
NM_000523.3:c.217G>A NP_000514.2:p.Gly73Ser
XM_011511068.1:c.725-1373G>A XP_011509370.1:n.725-1373G>A
XM_011511068.2:c.725-1373G>A XP_011509370.1:n.725-1373G>A
NM_000523.4:c.217G>A MANE Select NP_000514.2:p.Gly73Ser
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