Canonical Allele Identifier: CA362161650

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233001C>A , CM000667.2:g.173233001C>A	GRCh38
NC_000005.9:g.172660004C>A , CM000667.1:g.172660004C>A	GRCh37
NC_000005.8:g.172592610C>A	NCBI36
NG_013340.1:g.7312G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004387.4:c.543G>T MANE Select	NP_004378.1:p.Gln181His
ENST00000329198.5:c.543G>T MANE Select	ENSP00000327758.4:p.Gln181His
NM_001166175.1:c.*496G>T	NP_001159647.1:n.*496G>T
NM_001166175.2:c.*496G>T	NP_001159647.1:n.*496G>T
NM_001166176.1:c.*342G>T	NP_001159648.1:n.*342G>T
NM_001166176.2:c.*342G>T	NP_001159648.1:n.*342G>T
NM_004387.3:c.543G>T	NP_004378.1:p.Gln181His
ENST00000329198.4:c.543G>T	ENSP00000327758.4:p.Gln181His
ENST00000424406.2:c.*496G>T	ENSP00000395378.2:n.*496G>T
ENST00000521848.1:c.*342G>T	ENSP00000427906.1:n.*342G>T