Canonical Allele Identifier: CA6603934
Gene: HOXC13 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.53945268C>A
GRCh37 chr12:g.54339052C>A
gnomAD v2:
12:54339052 C / A
gnomAD v3:
12:53945268 C / A
gnomAD v4:
chr12-53945268-C-A
Joint Max Group AF 0.81097742 (EAS)
Genomes Max Group AF 0.77416793 (EAS)
Exomes Max Group AF 0.8135933 (EAS)
ClinVar RCV:
RCV001702058
ClinVar Variation:
1285351
dbSNP:
4759058
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53945268C>A , CM000674.2:g.53945268C>A GRCh38
NC_000012.11:g.54339052C>A , CM000674.1:g.54339052C>A GRCh37
NC_000012.10:g.52625319C>A NCBI36
NG_033026.1:g.11477C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243056.5:c.*12C>A MANE Select ENSP00000243056.3:n.*12C>A
ENST00000243056.4:c.*12C>A ENSP00000243056.3:n.*12C>A
NM_017410.2:c.*12C>A NP_059106.2:n.*12C>A
NM_017410.3:c.*12C>A MANE Select NP_059106.2:n.*12C>A
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