Canonical Allele Identifier: CA5726040

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 731317
• ClinVar RCV Id: RCV000906260 ; RCV001108056
• dbSNP Id: rs139620409
• ExAC: 10:124268260 C / T
• gnomAD v2: 10-124268260-C-T
• gnomAD v3: 10-122508744-C-T
• gnomAD v4: 10-122508744-C-T
• MyVariant Identifiers: chr10:g.124268260C>T (hg19) ; chr10:g.122508744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508744C>T , CM000672.2:g.122508744C>T	GRCh38
NC_000010.10:g.124268260C>T , CM000672.1:g.124268260C>T	GRCh37
NC_000010.9:g.124258250C>T	NCBI36
NG_011554.1:g.52220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1094C>T MANE Select	ENSP00000357980.3:p.Thr365Met
ENST00000648167.1:c.776C>T	ENSP00000498033.1:p.Thr259Met
ENST00000368984.7:c.1094C>T	ENSP00000357980.3:p.Thr365Met
ENST00000420892.1:c.317C>T	ENSP00000412676.1:p.Thr106Met
NM_002775.4:c.1094C>T	NP_002766.1:p.Thr365Met
NM_002775.5:c.1094C>T MANE Select	NP_002766.1:p.Thr365Met