Canonical Allele Identifier: CA10576048
Gene: HOXD13 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.176094614C>G
GRCh37 chr2:g.176959342C>G
Revel Score:
ENST00000392539 (MANE Select) 0.976
ClinVar RCV:
RCV000210953
ClinVar Variation:
225656
dbSNP:
28933082
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176094614C>G , CM000664.2:g.176094614C>G GRCh38
NC_000002.11:g.176959342C>G , CM000664.1:g.176959342C>G GRCh37
NC_000002.10:g.176667588C>G NCBI36
NG_008137.1:g.6811C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.916C>G MANE Select ENSP00000376322.3:p.Arg306Gly
ENST00000392539.3:c.916C>G ENSP00000376322.3:p.Arg306Gly
NM_000523.3:c.916C>G NP_000514.2:p.Arg306Gly
XM_011511068.1:c.859C>G XP_011509370.1:p.Arg287Gly
XM_011511068.2:c.859C>G XP_011509370.1:p.Arg287Gly
NM_000523.4:c.916C>G MANE Select NP_000514.2:p.Arg306Gly
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