Canonical Allele Identifier: CA5756160
Gene: NKX6-2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.132785890T>C
GRCh37 chr10:g.134599394T>C
Revel Score:
ENST00000368592 (MANE Select) 0.745
gnomAD v2:
10:134599394 T / C
gnomAD v4:
chr10-132785890-T-C
Joint Max Group AF 3.2e-7 (NFE)
Exomes Max Group AF 3.4e-7 (NFE)
ClinVar RCV:
RCV001333659
ClinVar Variation:
1031745
dbSNP:
745907425
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.132785890T>C , CM000672.2:g.132785890T>C GRCh38
NC_000010.10:g.134599394T>C , CM000672.1:g.134599394T>C GRCh37
NC_000010.9:g.134449384T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368592.8:c.59A>G MANE Select ENSP00000357581.5:p.His20Arg
ENST00000368592.7:c.59A>G ENSP00000357581.5:p.His20Arg
NM_177400.2:c.59A>G NP_796374.1:p.His20Arg
XM_017016789.2:c.59A>G XP_016872278.1:p.His20Arg
NM_177400.3:c.59A>G MANE Select NP_796374.2:p.His20Arg
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