Canonical Allele Identifier: CA362161571

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1428226457
• gnomAD v2: 5-172659970-A-G
• MyVariant Identifiers: chr5:g.172659970A>G (hg19) ; chr5:g.173232967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232967A>G , CM000667.2:g.173232967A>G	GRCh38
NC_000005.9:g.172659970A>G , CM000667.1:g.172659970A>G	GRCh37
NC_000005.8:g.172592576A>G	NCBI36
NG_013340.1:g.7346T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.577T>C MANE Select	ENSP00000327758.4:p.Cys193Arg
ENST00000329198.4:c.577T>C	ENSP00000327758.4:p.Cys193Arg
ENST00000424406.2:c.*530T>C	ENSP00000395378.2:n.*530T>C
ENST00000521848.1:c.*376T>C	ENSP00000427906.1:n.*376T>C
NM_001166175.1:c.*530T>C	NP_001159647.1:n.*530T>C
NM_001166176.1:c.*376T>C	NP_001159648.1:n.*376T>C
NM_004387.3:c.577T>C	NP_004378.1:p.Cys193Arg
NM_004387.4:c.577T>C MANE Select	NP_004378.1:p.Cys193Arg
NM_001166175.2:c.*530T>C	NP_001159647.1:n.*530T>C
NM_001166176.2:c.*376T>C	NP_001159648.1:n.*376T>C