Canonical Allele Identifier: CA564904281

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1202500388
• gnomAD v2: 5-172662098-C-T
• gnomAD v4: 5-173235095-C-T
• MyVariant Identifiers: chr5:g.172662098C>T (hg19) ; chr5:g.173235095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235095C>T , CM000667.2:g.173235095C>T	GRCh38
NC_000005.9:g.172662098C>T , CM000667.1:g.172662098C>T	GRCh37
NC_000005.8:g.172594704C>T	NCBI36
NG_013340.1:g.5218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.-12G>A MANE Select	ENSP00000327758.4:n.-12G>A
ENST00000329198.4:c.-12G>A	ENSP00000327758.4:n.-12G>A
ENST00000424406.2:c.-12G>A	ENSP00000395378.2:n.-12G>A
ENST00000517440.1:c.-12G>A	ENSP00000429905.1:n.-12G>A
ENST00000521848.1:c.-12G>A	ENSP00000427906.1:n.-12G>A
NM_001166175.1:c.-12G>A	NP_001159647.1:n.-12G>A
NM_001166176.1:c.-12G>A	NP_001159648.1:n.-12G>A
NM_004387.3:c.-12G>A	NP_004378.1:n.-12G>A
XM_017009071.2:c.-12G>A	XP_016864560.1:n.-12G>A
NM_004387.4:c.-12G>A MANE Select	NP_004378.1:n.-12G>A
NM_001166175.2:c.-12G>A	NP_001159647.1:n.-12G>A
NM_001166176.2:c.-12G>A	NP_001159648.1:n.-12G>A