Canonical Allele Identifier: CA3563691

Gene: NKX2-5

Linked Data

• dbSNP Id: rs757605578
• ExAC: 5:172660059 A / G
• gnomAD v2: 5-172660059-A-G
• gnomAD v4: 5-173233056-A-G
• MyVariant Identifiers: chr5:g.172660059A>G (hg19) ; chr5:g.173233056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233056A>G , CM000667.2:g.173233056A>G	GRCh38
NC_000005.9:g.172660059A>G , CM000667.1:g.172660059A>G	GRCh37
NC_000005.8:g.172592665A>G	NCBI36
NG_013340.1:g.7257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.488T>C MANE Select	ENSP00000327758.4:p.Leu163Pro
ENST00000329198.4:c.488T>C	ENSP00000327758.4:p.Leu163Pro
ENST00000424406.2:c.*441T>C	ENSP00000395378.2:n.*441T>C
ENST00000521848.1:c.*287T>C	ENSP00000427906.1:n.*287T>C
NM_001166175.1:c.*441T>C	NP_001159647.1:n.*441T>C
NM_001166176.1:c.*287T>C	NP_001159648.1:n.*287T>C
NM_004387.3:c.488T>C	NP_004378.1:p.Leu163Pro
NM_004387.4:c.488T>C MANE Select	NP_004378.1:p.Leu163Pro
NM_001166175.2:c.*441T>C	NP_001159647.1:n.*441T>C
NM_001166176.2:c.*287T>C	NP_001159648.1:n.*287T>C