Canonical Allele Identifier: CA362162008

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172660183G>C (hg19) ; chr5:g.173233180G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233180G>C , CM000667.2:g.173233180G>C	GRCh38
NC_000005.9:g.172660183G>C , CM000667.1:g.172660183G>C	GRCh37
NC_000005.8:g.172592789G>C	NCBI36
NG_013340.1:g.7133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.364C>G MANE Select	ENSP00000327758.4:p.Leu122Val
ENST00000329198.4:c.364C>G	ENSP00000327758.4:p.Leu122Val
ENST00000424406.2:c.*317C>G	ENSP00000395378.2:n.*317C>G
ENST00000521848.1:c.*163C>G	ENSP00000427906.1:n.*163C>G
NM_001166175.1:c.*317C>G	NP_001159647.1:n.*317C>G
NM_001166176.1:c.*163C>G	NP_001159648.1:n.*163C>G
NM_004387.3:c.364C>G	NP_004378.1:p.Leu122Val
NM_004387.4:c.364C>G MANE Select	NP_004378.1:p.Leu122Val
NM_001166175.2:c.*317C>G	NP_001159647.1:n.*317C>G
NM_001166176.2:c.*163C>G	NP_001159648.1:n.*163C>G