Canonical Allele Identifier: CA362161706

Gene: NKX2-5

Linked Data

• dbSNP Id: rs2113901688
• gnomAD v4: 5-173233029-G-T
• MyVariant Identifiers: chr5:g.172660032G>T (hg19) ; chr5:g.173233029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233029G>T , CM000667.2:g.173233029G>T	GRCh38
NC_000005.9:g.172660032G>T , CM000667.1:g.172660032G>T	GRCh37
NC_000005.8:g.172592638G>T	NCBI36
NG_013340.1:g.7284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.515C>A MANE Select	ENSP00000327758.4:p.Ala172Asp
ENST00000329198.4:c.515C>A	ENSP00000327758.4:p.Ala172Asp
ENST00000424406.2:c.*468C>A	ENSP00000395378.2:n.*468C>A
ENST00000521848.1:c.*314C>A	ENSP00000427906.1:n.*314C>A
NM_001166175.1:c.*468C>A	NP_001159647.1:n.*468C>A
NM_001166176.1:c.*314C>A	NP_001159648.1:n.*314C>A
NM_004387.3:c.515C>A	NP_004378.1:p.Ala172Asp
NM_004387.4:c.515C>A MANE Select	NP_004378.1:p.Ala172Asp
NM_001166175.2:c.*468C>A	NP_001159647.1:n.*468C>A
NM_001166176.2:c.*314C>A	NP_001159648.1:n.*314C>A