Canonical Allele Identifier: CA650504891
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232551G>A , CM000667.2:g.173232551G>A GRCh38
NC_000005.9:g.172659554G>A , CM000667.1:g.172659554G>A GRCh37
NC_000005.8:g.172592160G>A NCBI36
NG_013340.1:g.7762C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*18C>T MANE Select ENSP00000327758.4:n.*18C>T
ENST00000329198.4:c.*18C>T ENSP00000327758.4:n.*18C>T
NM_001166175.1:c.*946C>T NP_001159647.1:n.*946C>T
NM_001166176.1:c.*792C>T NP_001159648.1:n.*792C>T
NM_004387.3:c.*18C>T NP_004378.1:n.*18C>T
NM_004387.4:c.*18C>T MANE Select NP_004378.1:n.*18C>T
NM_001166175.2:c.*946C>T NP_001159647.1:n.*946C>T
NM_001166176.2:c.*792C>T NP_001159648.1:n.*792C>T