Canonical Allele Identifier: CA2676542144
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232512G>A , CM000667.2:g.173232512G>A GRCh38
NC_000005.9:g.172659515G>A , CM000667.1:g.172659515G>A GRCh37
NC_000005.8:g.172592121G>A NCBI36
NG_013340.1:g.7801C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*57C>T MANE Select ENSP00000327758.4:n.*57C>T
ENST00000329198.4:c.*57C>T ENSP00000327758.4:n.*57C>T
NM_001166175.1:c.*985C>T NP_001159647.1:n.*985C>T
NM_001166176.1:c.*831C>T NP_001159648.1:n.*831C>T
NM_004387.3:c.*57C>T NP_004378.1:n.*57C>T
NM_004387.4:c.*57C>T MANE Select NP_004378.1:n.*57C>T
NM_001166175.2:c.*985C>T NP_001159647.1:n.*985C>T
NM_001166176.2:c.*831C>T NP_001159648.1:n.*831C>T