Canonical Allele Identifier: CA362161000
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1318592912

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232672T>C , CM000667.2:g.173232672T>C GRCh38
NC_000005.9:g.172659675T>C , CM000667.1:g.172659675T>C GRCh37
NC_000005.8:g.172592281T>C NCBI36
NG_013340.1:g.7641A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.872A>G MANE Select ENSP00000327758.4:p.Asn291Ser
ENST00000329198.4:c.872A>G ENSP00000327758.4:p.Asn291Ser
NM_001166175.1:c.*825A>G NP_001159647.1:n.*825A>G
NM_001166176.1:c.*671A>G NP_001159648.1:n.*671A>G
NM_004387.3:c.872A>G NP_004378.1:p.Asn291Ser
NM_004387.4:c.872A>G MANE Select NP_004378.1:p.Asn291Ser
NM_001166175.2:c.*825A>G NP_001159647.1:n.*825A>G
NM_001166176.2:c.*671A>G NP_001159648.1:n.*671A>G