Canonical Allele Identifier: CA370605122
Gene: NKX3-1 HGNC NCBI

Linked Data

dbSNP Id: rs1365972378
gnomAD v2: 8-23540260-C-A
gnomAD v4: 8-23682747-C-A
MyVariant Identifiers: chr8:g.23540260C>A (hg19) chr8:g.23682747C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23682747C>A , CM000670.2:g.23682747C>A GRCh38
NC_000008.10:g.23540260C>A , CM000670.1:g.23540260C>A GRCh37
NC_000008.9:g.23596205C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380871.5:c.143G>T MANE Select ENSP00000370253.4:p.Ser48Ile
ENST00000380871.4:c.143G>T ENSP00000370253.4:p.Ser48Ile
ENST00000523261.1:c.33+110G>T ENSP00000429729.1:n.33+110G>T
NM_001256339.1:c.33+110G>T NP_001243268.1:n.33+110G>T
NM_006167.3:c.143G>T NP_006158.2:p.Ser48Ile
NR_046072.1:n.18+157G>T
XR_001745842.1:n.1312+13997C>A
NM_006167.4:c.143G>T MANE Select NP_006158.2:p.Ser48Ile
NR_046072.2:n.35+157G>T
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