Canonical Allele Identifier: CA2676542052

Gene: NKX2-5

Linked Data

• gnomAD v4: 5-173232397-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232397C>A , CM000667.2:g.173232397C>A	GRCh38
NC_000005.9:g.172659400C>A , CM000667.1:g.172659400C>A	GRCh37
NC_000005.8:g.172592006C>A	NCBI36
NG_013340.1:g.7916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*172G>T MANE Select	ENSP00000327758.4:n.*172G>T
ENST00000329198.4:c.*172G>T	ENSP00000327758.4:n.*172G>T
NM_001166175.1:c.*1100G>T	NP_001159647.1:n.*1100G>T
NM_001166176.1:c.*946G>T	NP_001159648.1:n.*946G>T
NM_004387.3:c.*172G>T	NP_004378.1:n.*172G>T
NM_004387.4:c.*172G>T MANE Select	NP_004378.1:n.*172G>T
NM_001166175.2:c.*1100G>T	NP_001159647.1:n.*1100G>T
NM_001166176.2:c.*946G>T	NP_001159648.1:n.*946G>T