Canonical Allele Identifier: CA2578487408

Gene: NKX2-5

Linked Data

• gnomAD v4: 5-173232568-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232568C>T , CM000667.2:g.173232568C>T	GRCh38
NC_000005.9:g.172659571C>T , CM000667.1:g.172659571C>T	GRCh37
NC_000005.8:g.172592177C>T	NCBI36
NG_013340.1:g.7745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*1G>A MANE Select	ENSP00000327758.4:n.*1G>A
ENST00000329198.4:c.*1G>A	ENSP00000327758.4:n.*1G>A
NM_001166175.1:c.*929G>A	NP_001159647.1:n.*929G>A
NM_001166176.1:c.*775G>A	NP_001159648.1:n.*775G>A
NM_004387.3:c.*1G>A	NP_004378.1:n.*1G>A
NM_004387.4:c.*1G>A MANE Select	NP_004378.1:n.*1G>A
NM_001166175.2:c.*929G>A	NP_001159647.1:n.*929G>A
NM_001166176.2:c.*775G>A	NP_001159648.1:n.*775G>A