Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA362160957

Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 453141

ClinVar RCV Id: RCV002525255

dbSNP Id: rs1358735679

MyVariant Identifiers: chr5:g.172659661C>T (hg19) chr5:g.173232658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232658C>T , CM000667.2:g.173232658C>T	GRCh38
NC_000005.9:g.172659661C>T , CM000667.1:g.172659661C>T	GRCh37
NC_000005.8:g.172592267C>T	NCBI36
NG_013340.1:g.7655G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000329198.5:c.886G>A MANE Select	ENSP00000327758.4:p.Gly296Ser
ENST00000329198.4:c.886G>A	ENSP00000327758.4:p.Gly296Ser
NM_001166175.1:c.*839G>A	NP_001159647.1:n.*839G>A
NM_001166176.1:c.*685G>A	NP_001159648.1:n.*685G>A
NM_004387.3:c.886G>A	NP_004378.1:p.Gly296Ser
NM_004387.4:c.886G>A MANE Select	NP_004378.1:p.Gly296Ser
NM_001166175.2:c.*839G>A	NP_001159647.1:n.*839G>A
NM_001166176.2:c.*685G>A	NP_001159648.1:n.*685G>A