Canonical Allele Identifier: CA362161657
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1256674245

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233005G>A , CM000667.2:g.173233005G>A GRCh38
NC_000005.9:g.172660008G>A , CM000667.1:g.172660008G>A GRCh37
NC_000005.8:g.172592614G>A NCBI36
NG_013340.1:g.7308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.539C>T MANE Select ENSP00000327758.4:p.Thr180Met
ENST00000329198.4:c.539C>T ENSP00000327758.4:p.Thr180Met
ENST00000424406.2:c.*492C>T ENSP00000395378.2:n.*492C>T
ENST00000521848.1:c.*338C>T ENSP00000427906.1:n.*338C>T
NM_001166175.1:c.*492C>T NP_001159647.1:n.*492C>T
NM_001166176.1:c.*338C>T NP_001159648.1:n.*338C>T
NM_004387.3:c.539C>T NP_004378.1:p.Thr180Met
NM_004387.4:c.539C>T MANE Select NP_004378.1:p.Thr180Met
NM_001166175.2:c.*492C>T NP_001159647.1:n.*492C>T
NM_001166176.2:c.*338C>T NP_001159648.1:n.*338C>T