Canonical Allele Identifier: CA362161785

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1410674749
• gnomAD v2: 5-172660071-T-C
• gnomAD v4: 5-173233068-T-C
• MyVariant Identifiers: chr5:g.172660071T>C (hg19) ; chr5:g.173233068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233068T>C , CM000667.2:g.173233068T>C	GRCh38
NC_000005.9:g.172660071T>C , CM000667.1:g.172660071T>C	GRCh37
NC_000005.8:g.172592677T>C	NCBI36
NG_013340.1:g.7245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.476A>G MANE Select	ENSP00000327758.4:p.Gln159Arg
ENST00000329198.4:c.476A>G	ENSP00000327758.4:p.Gln159Arg
ENST00000424406.2:c.*429A>G	ENSP00000395378.2:n.*429A>G
ENST00000521848.1:c.*275A>G	ENSP00000427906.1:n.*275A>G
NM_001166175.1:c.*429A>G	NP_001159647.1:n.*429A>G
NM_001166176.1:c.*275A>G	NP_001159648.1:n.*275A>G
NM_004387.3:c.476A>G	NP_004378.1:p.Gln159Arg
NM_004387.4:c.476A>G MANE Select	NP_004378.1:p.Gln159Arg
NM_001166175.2:c.*429A>G	NP_001159647.1:n.*429A>G
NM_001166176.2:c.*275A>G	NP_001159648.1:n.*275A>G