Canonical Allele Identifier: CA362161643

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232997T>G , CM000667.2:g.173232997T>G	GRCh38
NC_000005.9:g.172660000T>G , CM000667.1:g.172660000T>G	GRCh37
NC_000005.8:g.172592606T>G	NCBI36
NG_013340.1:g.7316A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004387.4:c.547A>C MANE Select	NP_004378.1:p.Lys183Gln
ENST00000329198.5:c.547A>C MANE Select	ENSP00000327758.4:p.Lys183Gln
NM_001166175.1:c.*500A>C	NP_001159647.1:n.*500A>C
NM_001166175.2:c.*500A>C	NP_001159647.1:n.*500A>C
NM_001166176.1:c.*346A>C	NP_001159648.1:n.*346A>C
NM_001166176.2:c.*346A>C	NP_001159648.1:n.*346A>C
NM_004387.3:c.547A>C	NP_004378.1:p.Lys183Gln
ENST00000329198.4:c.547A>C	ENSP00000327758.4:p.Lys183Gln
ENST00000424406.2:c.*500A>C	ENSP00000395378.2:n.*500A>C
ENST00000521848.1:c.*346A>C	ENSP00000427906.1:n.*346A>C