Canonical Allele Identifier: CA124416
Gene: HOXD13 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.176094645C>G
GRCh37 chr2:g.176959373C>G
Revel Score:
ENST00000392539 (MANE Select) 0.926
gnomAD v4:
chr2-176094645-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000015997
RCV000015998
ClinVar Variation:
14870
dbSNP:
28928892
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176094645C>G , CM000664.2:g.176094645C>G GRCh38
NC_000002.11:g.176959373C>G , CM000664.1:g.176959373C>G GRCh37
NC_000002.10:g.176667619C>G NCBI36
NG_008137.1:g.6842C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.947C>G MANE Select ENSP00000376322.3:p.Ser316Cys
ENST00000392539.3:c.947C>G ENSP00000376322.3:p.Ser316Cys
NM_000523.3:c.947C>G NP_000514.2:p.Ser316Cys
XM_011511068.1:c.890C>G XP_011509370.1:p.Ser297Cys
XM_011511068.2:c.890C>G XP_011509370.1:p.Ser297Cys
NM_000523.4:c.947C>G MANE Select NP_000514.2:p.Ser316Cys
Search 100 bp 5'
Search 100 bp 3'