Canonical Allele Identifier: CA447974656
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659626C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232623C>G , CM000667.2:g.173232623C>G GRCh38
NC_000005.9:g.172659626C>G , CM000667.1:g.172659626C>G GRCh37
NC_000005.8:g.172592232C>G NCBI36
NG_013340.1:g.7690G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.921G>C MANE Select ENSP00000327758.4:p.Gly307=
ENST00000329198.4:c.921G>C ENSP00000327758.4:p.Gly307=
NM_001166175.1:c.*874G>C NP_001159647.1:n.*874G>C
NM_001166176.1:c.*720G>C NP_001159648.1:n.*720G>C
NM_004387.3:c.921G>C NP_004378.1:p.Gly307=
NM_004387.4:c.921G>C MANE Select NP_004378.1:p.Gly307=
NM_001166175.2:c.*874G>C NP_001159647.1:n.*874G>C
NM_001166176.2:c.*720G>C NP_001159648.1:n.*720G>C