Canonical Allele Identifier: CA120055
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9008
dbSNP Id: rs28936670

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173235011G>A , CM000667.2:g.173235011G>A GRCh38
NC_000005.9:g.172662014G>A , CM000667.1:g.172662014G>A GRCh37
NC_000005.8:g.172594620G>A NCBI36
NG_013340.1:g.5302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.73C>T MANE Select ENSP00000327758.4:p.Arg25Cys
ENST00000329198.4:c.73C>T ENSP00000327758.4:p.Arg25Cys
ENST00000424406.2:c.73C>T ENSP00000395378.2:p.Arg25Cys
ENST00000517440.1:c.73C>T ENSP00000429905.1:p.Arg25Cys
ENST00000521848.1:c.73C>T ENSP00000427906.1:p.Arg25Cys
NM_001166175.1:c.73C>T NP_001159647.1:p.Arg25Cys
NM_001166176.1:c.73C>T NP_001159648.1:p.Arg25Cys
NM_004387.3:c.73C>T NP_004378.1:p.Arg25Cys
XM_017009071.2:c.73C>T XP_016864560.1:p.Arg25Cys
NM_004387.4:c.73C>T MANE Select NP_004378.1:p.Arg25Cys
NM_001166175.2:c.73C>T NP_001159647.1:p.Arg25Cys
NM_001166176.2:c.73C>T NP_001159648.1:p.Arg25Cys