Canonical Allele Identifier: CA4677884
Gene: NKX3-1 HGNC NCBI

Linked Data

dbSNP Id: rs2228013
gnomAD v2: 8-23540249-G-A
gnomAD v3: 8-23682736-G-A
gnomAD v4: 8-23682736-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23682736G>A , CM000670.2:g.23682736G>A GRCh38
NC_000008.10:g.23540249G>A , CM000670.1:g.23540249G>A GRCh37
NC_000008.9:g.23596194G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000380871.5:c.154C>T MANE Select ENSP00000370253.4:p.Arg52Cys
ENST00000380871.4:c.154C>T ENSP00000370253.4:p.Arg52Cys
ENST00000523261.1:c.34-105C>T ENSP00000429729.1:n.34-105C>T
NM_001256339.1:c.34-105C>T NP_001243268.1:n.34-105C>T
NM_006167.3:c.154C>T NP_006158.2:p.Arg52Cys
NR_046072.1:n.18+168C>T
XR_001745842.1:n.1312+13986G>A
NM_006167.4:c.154C>T MANE Select NP_006158.2:p.Arg52Cys
NR_046072.2:n.35+168C>T