Canonical Allele Identifier: CA362161284
Gene: NKX2-5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.172659820C>G (hg19) chr5:g.173232817C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232817C>G , CM000667.2:g.173232817C>G GRCh38
NC_000005.9:g.172659820C>G , CM000667.1:g.172659820C>G GRCh37
NC_000005.8:g.172592426C>G NCBI36
NG_013340.1:g.7496G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.727G>C MANE Select ENSP00000327758.4:p.Val243Leu
ENST00000329198.4:c.727G>C ENSP00000327758.4:p.Val243Leu
NM_001166175.1:c.*680G>C NP_001159647.1:n.*680G>C
NM_001166176.1:c.*526G>C NP_001159648.1:n.*526G>C
NM_004387.3:c.727G>C NP_004378.1:p.Val243Leu
NM_004387.4:c.727G>C MANE Select NP_004378.1:p.Val243Leu
NM_001166175.2:c.*680G>C NP_001159647.1:n.*680G>C
NM_001166176.2:c.*526G>C NP_001159648.1:n.*526G>C
Search 100 bp 5'
Search 100 bp 3'