Canonical Allele Identifier: CA362160872
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659636T>C (hg19) chr5:g.173232633T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232633T>C , CM000667.2:g.173232633T>C GRCh38
NC_000005.9:g.172659636T>C , CM000667.1:g.172659636T>C GRCh37
NC_000005.8:g.172592242T>C NCBI36
NG_013340.1:g.7680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.911A>G MANE Select ENSP00000327758.4:p.Gln304Arg
ENST00000329198.4:c.911A>G ENSP00000327758.4:p.Gln304Arg
NM_001166175.1:c.*864A>G NP_001159647.1:n.*864A>G
NM_001166176.1:c.*710A>G NP_001159648.1:n.*710A>G
NM_004387.3:c.911A>G NP_004378.1:p.Gln304Arg
NM_004387.4:c.911A>G MANE Select NP_004378.1:p.Gln304Arg
NM_001166175.2:c.*864A>G NP_001159647.1:n.*864A>G
NM_001166176.2:c.*710A>G NP_001159648.1:n.*710A>G
Search 100 bp 5'
Search 100 bp 3'