Canonical Allele Identifier: CA362161801

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233075A>C , CM000667.2:g.173233075A>C	GRCh38
NC_000005.9:g.172660078A>C , CM000667.1:g.172660078A>C	GRCh37
NC_000005.8:g.172592684A>C	NCBI36
NG_013340.1:g.7238T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004387.4:c.469T>G MANE Select	NP_004378.1:p.Phe157Val
ENST00000329198.5:c.469T>G MANE Select	ENSP00000327758.4:p.Phe157Val
NM_001166175.1:c.*422T>G	NP_001159647.1:n.*422T>G
NM_001166175.2:c.*422T>G	NP_001159647.1:n.*422T>G
NM_001166176.1:c.*268T>G	NP_001159648.1:n.*268T>G
NM_001166176.2:c.*268T>G	NP_001159648.1:n.*268T>G
NM_004387.3:c.469T>G	NP_004378.1:p.Phe157Val
ENST00000329198.4:c.469T>G	ENSP00000327758.4:p.Phe157Val
ENST00000424406.2:c.*422T>G	ENSP00000395378.2:n.*422T>G
ENST00000521848.1:c.*268T>G	ENSP00000427906.1:n.*268T>G