Canonical Allele Identifier: CA362161721

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233036G>C , CM000667.2:g.173233036G>C	GRCh38
NC_000005.9:g.172660039G>C , CM000667.1:g.172660039G>C	GRCh37
NC_000005.8:g.172592645G>C	NCBI36
NG_013340.1:g.7277C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004387.4:c.508C>G MANE Select	NP_004378.1:p.Gln170Glu
ENST00000329198.5:c.508C>G MANE Select	ENSP00000327758.4:p.Gln170Glu
NM_001166175.1:c.*461C>G	NP_001159647.1:n.*461C>G
NM_001166175.2:c.*461C>G	NP_001159647.1:n.*461C>G
NM_001166176.1:c.*307C>G	NP_001159648.1:n.*307C>G
NM_001166176.2:c.*307C>G	NP_001159648.1:n.*307C>G
NM_004387.3:c.508C>G	NP_004378.1:p.Gln170Glu
ENST00000329198.4:c.508C>G	ENSP00000327758.4:p.Gln170Glu
ENST00000424406.2:c.*461C>G	ENSP00000395378.2:n.*461C>G
ENST00000521848.1:c.*307C>G	ENSP00000427906.1:n.*307C>G