Canonical Allele Identifier: CA362160734
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232595T>A , CM000667.2:g.173232595T>A GRCh38
NC_000005.9:g.172659598T>A , CM000667.1:g.172659598T>A GRCh37
NC_000005.8:g.172592204T>A NCBI36
NG_013340.1:g.7718A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.949A>T MANE Select ENSP00000327758.4:p.Thr317Ser
ENST00000329198.4:c.949A>T ENSP00000327758.4:p.Thr317Ser
NM_001166175.1:c.*902A>T NP_001159647.1:n.*902A>T
NM_001166176.1:c.*748A>T NP_001159648.1:n.*748A>T
NM_004387.3:c.949A>T NP_004378.1:p.Thr317Ser
NM_004387.4:c.949A>T MANE Select NP_004378.1:p.Thr317Ser
NM_001166175.2:c.*902A>T NP_001159647.1:n.*902A>T
NM_001166176.2:c.*748A>T NP_001159648.1:n.*748A>T