Canonical Allele Identifier: CA362161423

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659893G>C (hg19) ; chr5:g.173232890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232890G>C , CM000667.2:g.173232890G>C	GRCh38
NC_000005.9:g.172659893G>C , CM000667.1:g.172659893G>C	GRCh37
NC_000005.8:g.172592499G>C	NCBI36
NG_013340.1:g.7423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.654C>G MANE Select	ENSP00000327758.4:p.Ile218Met
ENST00000329198.4:c.654C>G	ENSP00000327758.4:p.Ile218Met
NM_001166175.1:c.*607C>G	NP_001159647.1:n.*607C>G
NM_001166176.1:c.*453C>G	NP_001159648.1:n.*453C>G
NM_004387.3:c.654C>G	NP_004378.1:p.Ile218Met
NM_004387.4:c.654C>G MANE Select	NP_004378.1:p.Ile218Met
NM_001166175.2:c.*607C>G	NP_001159647.1:n.*607C>G
NM_001166176.2:c.*453C>G	NP_001159648.1:n.*453C>G