Canonical Allele Identifier: CA3563819

Gene: NKX2-5

Linked Data

• dbSNP Id: rs150813574
• ExAC: 5:172661843 A / T
• gnomAD v2: 5-172661843-A-T
• gnomAD v3: 5-173234840-A-T
• gnomAD v4: 5-173234840-A-T
• MyVariant Identifiers: chr5:g.172661843A>T (hg19) ; chr5:g.173234840A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234840A>T , CM000667.2:g.173234840A>T	GRCh38
NC_000005.9:g.172661843A>T , CM000667.1:g.172661843A>T	GRCh37
NC_000005.8:g.172594449A>T	NCBI36
NG_013340.1:g.5473T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.244T>A MANE Select	ENSP00000327758.4:p.Cys82Ser
ENST00000329198.4:c.244T>A	ENSP00000327758.4:p.Cys82Ser
ENST00000424406.2:c.244T>A	ENSP00000395378.2:p.Cys82Ser
ENST00000517440.1:c.244T>A	ENSP00000429905.1:p.Cys82Ser
ENST00000521848.1:c.244T>A	ENSP00000427906.1:p.Cys82Ser
NM_001166175.1:c.244T>A	NP_001159647.1:p.Cys82Ser
NM_001166176.1:c.244T>A	NP_001159648.1:p.Cys82Ser
NM_004387.3:c.244T>A	NP_004378.1:p.Cys82Ser
XM_017009071.2:c.244T>A	XP_016864560.1:p.Cys82Ser
NM_004387.4:c.244T>A MANE Select	NP_004378.1:p.Cys82Ser
NM_001166175.2:c.244T>A	NP_001159647.1:p.Cys82Ser
NM_001166176.2:c.244T>A	NP_001159648.1:p.Cys82Ser