Canonical Allele Identifier: CA362161283
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232817C>A , CM000667.2:g.173232817C>A GRCh38
NC_000005.9:g.172659820C>A , CM000667.1:g.172659820C>A GRCh37
NC_000005.8:g.172592426C>A NCBI36
NG_013340.1:g.7496G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.727G>T MANE Select ENSP00000327758.4:p.Val243Leu
ENST00000329198.4:c.727G>T ENSP00000327758.4:p.Val243Leu
NM_001166175.1:c.*680G>T NP_001159647.1:n.*680G>T
NM_001166176.1:c.*526G>T NP_001159648.1:n.*526G>T
NM_004387.3:c.727G>T NP_004378.1:p.Val243Leu
NM_004387.4:c.727G>T MANE Select NP_004378.1:p.Val243Leu
NM_001166175.2:c.*680G>T NP_001159647.1:n.*680G>T
NM_001166176.2:c.*526G>T NP_001159648.1:n.*526G>T