Canonical Allele Identifier: CA362161983

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172660171C>G (hg19) ; chr5:g.173233168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233168C>G , CM000667.2:g.173233168C>G	GRCh38
NC_000005.9:g.172660171C>G , CM000667.1:g.172660171C>G	GRCh37
NC_000005.8:g.172592777C>G	NCBI36
NG_013340.1:g.7145G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.376G>C MANE Select	ENSP00000327758.4:p.Glu126Gln
ENST00000329198.4:c.376G>C	ENSP00000327758.4:p.Glu126Gln
ENST00000424406.2:c.*329G>C	ENSP00000395378.2:n.*329G>C
ENST00000521848.1:c.*175G>C	ENSP00000427906.1:n.*175G>C
NM_001166175.1:c.*329G>C	NP_001159647.1:n.*329G>C
NM_001166176.1:c.*175G>C	NP_001159648.1:n.*175G>C
NM_004387.3:c.376G>C	NP_004378.1:p.Glu126Gln
NM_004387.4:c.376G>C MANE Select	NP_004378.1:p.Glu126Gln
NM_001166175.2:c.*329G>C	NP_001159647.1:n.*329G>C
NM_001166176.2:c.*175G>C	NP_001159648.1:n.*175G>C