Canonical Allele Identifier: CA362161316
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 523473
dbSNP Id: rs1554093433

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232833G>T , CM000667.2:g.173232833G>T GRCh38
NC_000005.9:g.172659836G>T , CM000667.1:g.172659836G>T GRCh37
NC_000005.8:g.172592442G>T NCBI36
NG_013340.1:g.7480C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.711C>A MANE Select ENSP00000327758.4:p.Tyr237Ter
ENST00000329198.4:c.711C>A ENSP00000327758.4:p.Tyr237Ter
NM_001166175.1:c.*664C>A NP_001159647.1:n.*664C>A
NM_001166176.1:c.*510C>A NP_001159648.1:n.*510C>A
NM_004387.3:c.711C>A NP_004378.1:p.Tyr237Ter
NM_004387.4:c.711C>A MANE Select NP_004378.1:p.Tyr237Ter
NM_001166175.2:c.*664C>A NP_001159647.1:n.*664C>A
NM_001166176.2:c.*510C>A NP_001159648.1:n.*510C>A