Canonical Allele Identifier: CA362161256
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232802A>C , CM000667.2:g.173232802A>C GRCh38
NC_000005.9:g.172659805A>C , CM000667.1:g.172659805A>C GRCh37
NC_000005.8:g.172592411A>C NCBI36
NG_013340.1:g.7511T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.742T>G MANE Select ENSP00000327758.4:p.Tyr248Asp
ENST00000329198.4:c.742T>G ENSP00000327758.4:p.Tyr248Asp
NM_001166175.1:c.*695T>G NP_001159647.1:n.*695T>G
NM_001166176.1:c.*541T>G NP_001159648.1:n.*541T>G
NM_004387.3:c.742T>G NP_004378.1:p.Tyr248Asp
NM_004387.4:c.742T>G MANE Select NP_004378.1:p.Tyr248Asp
NM_001166175.2:c.*695T>G NP_001159647.1:n.*695T>G
NM_001166176.2:c.*541T>G NP_001159648.1:n.*541T>G