Canonical Allele Identifier: CA447974542

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659581T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232578T>G , CM000667.2:g.173232578T>G	GRCh38
NC_000005.9:g.172659581T>G , CM000667.1:g.172659581T>G	GRCh37
NC_000005.8:g.172592187T>G	NCBI36
NG_013340.1:g.7735A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.966A>C MANE Select	ENSP00000327758.4:p.Arg322=
ENST00000329198.4:c.966A>C	ENSP00000327758.4:p.Arg322=
NM_001166175.1:c.*919A>C	NP_001159647.1:n.*919A>C
NM_001166176.1:c.*765A>C	NP_001159648.1:n.*765A>C
NM_004387.3:c.966A>C	NP_004378.1:p.Arg322=
NM_004387.4:c.966A>C MANE Select	NP_004378.1:p.Arg322=
NM_001166175.2:c.*919A>C	NP_001159647.1:n.*919A>C
NM_001166176.2:c.*765A>C	NP_001159648.1:n.*765A>C