Canonical Allele Identifier: CA132258989

Gene: NKX2-5

Linked Data

• dbSNP Id: rs919084655
• gnomAD v3: 5-173232799-C-T
• gnomAD v4: 5-173232799-C-T
• MyVariant Identifiers: chr5:g.172659802C>T (hg19) ; chr5:g.173232799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232799C>T , CM000667.2:g.173232799C>T	GRCh38
NC_000005.9:g.172659802C>T , CM000667.1:g.172659802C>T	GRCh37
NC_000005.8:g.172592408C>T	NCBI36
NG_013340.1:g.7514G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.745G>A MANE Select	ENSP00000327758.4:p.Gly249Ser
ENST00000329198.4:c.745G>A	ENSP00000327758.4:p.Gly249Ser
NM_001166175.1:c.*698G>A	NP_001159647.1:n.*698G>A
NM_001166176.1:c.*544G>A	NP_001159648.1:n.*544G>A
NM_004387.3:c.745G>A	NP_004378.1:p.Gly249Ser
NM_004387.4:c.745G>A MANE Select	NP_004378.1:p.Gly249Ser
NM_001166175.2:c.*698G>A	NP_001159647.1:n.*698G>A
NM_001166176.2:c.*544G>A	NP_001159648.1:n.*544G>A