Canonical Allele Identifier: CA362160938

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172659655C>G (hg19) ; chr5:g.173232652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232652C>G , CM000667.2:g.173232652C>G	GRCh38
NC_000005.9:g.172659655C>G , CM000667.1:g.172659655C>G	GRCh37
NC_000005.8:g.172592261C>G	NCBI36
NG_013340.1:g.7661G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.892G>C MANE Select	ENSP00000327758.4:p.Gly298Arg
ENST00000329198.4:c.892G>C	ENSP00000327758.4:p.Gly298Arg
NM_001166175.1:c.*845G>C	NP_001159647.1:n.*845G>C
NM_001166176.1:c.*691G>C	NP_001159648.1:n.*691G>C
NM_004387.3:c.892G>C	NP_004378.1:p.Gly298Arg
NM_004387.4:c.892G>C MANE Select	NP_004378.1:p.Gly298Arg
NM_001166175.2:c.*845G>C	NP_001159647.1:n.*845G>C
NM_001166176.2:c.*691G>C	NP_001159648.1:n.*691G>C