Canonical Allele Identifier: CA362161439

Gene: NKX2-5

Linked Data

• gnomAD v4: 5-173232898-G-T
• MyVariant Identifiers: chr5:g.172659901G>T (hg19) ; chr5:g.173232898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232898G>T , CM000667.2:g.173232898G>T	GRCh38
NC_000005.9:g.172659901G>T , CM000667.1:g.172659901G>T	GRCh37
NC_000005.8:g.172592507G>T	NCBI36
NG_013340.1:g.7415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.646C>A MANE Select	ENSP00000327758.4:p.Arg216Ser
ENST00000329198.4:c.646C>A	ENSP00000327758.4:p.Arg216Ser
ENST00000424406.2:c.*599C>A	ENSP00000395378.2:n.*599C>A
ENST00000521848.1:c.*445C>A	ENSP00000427906.1:n.*445C>A
NM_001166175.1:c.*599C>A	NP_001159647.1:n.*599C>A
NM_001166176.1:c.*445C>A	NP_001159648.1:n.*445C>A
NM_004387.3:c.646C>A	NP_004378.1:p.Arg216Ser
NM_004387.4:c.646C>A MANE Select	NP_004378.1:p.Arg216Ser
NM_001166175.2:c.*599C>A	NP_001159647.1:n.*599C>A
NM_001166176.2:c.*445C>A	NP_001159648.1:n.*445C>A