Canonical Allele Identifier: CA362161674

Gene: NKX2-5

Linked Data

• MyVariant Identifiers: chr5:g.172660017A>G (hg19) ; chr5:g.173233014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233014A>G , CM000667.2:g.173233014A>G	GRCh38
NC_000005.9:g.172660017A>G , CM000667.1:g.172660017A>G	GRCh37
NC_000005.8:g.172592623A>G	NCBI36
NG_013340.1:g.7299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.530T>C MANE Select	ENSP00000327758.4:p.Leu177Pro
ENST00000329198.4:c.530T>C	ENSP00000327758.4:p.Leu177Pro
ENST00000424406.2:c.*483T>C	ENSP00000395378.2:n.*483T>C
ENST00000521848.1:c.*329T>C	ENSP00000427906.1:n.*329T>C
NM_001166175.1:c.*483T>C	NP_001159647.1:n.*483T>C
NM_001166176.1:c.*329T>C	NP_001159648.1:n.*329T>C
NM_004387.3:c.530T>C	NP_004378.1:p.Leu177Pro
NM_004387.4:c.530T>C MANE Select	NP_004378.1:p.Leu177Pro
NM_001166175.2:c.*483T>C	NP_001159647.1:n.*483T>C
NM_001166176.2:c.*329T>C	NP_001159648.1:n.*329T>C