Canonical Allele Identifier: CA345927
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156101
ClinVar RCV Id: RCV000144149
dbSNP Id: rs587776447

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508741T>C , CM000672.2:g.122508741T>C GRCh38
NC_000010.10:g.124268257T>C , CM000672.1:g.124268257T>C GRCh37
NC_000010.9:g.124258247T>C NCBI36
NG_011554.1:g.52217T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.1091T>C MANE Select ENSP00000357980.3:p.Leu364Pro
ENST00000648167.1:c.773T>C ENSP00000498033.1:p.Leu258Pro
ENST00000368984.7:c.1091T>C ENSP00000357980.3:p.Leu364Pro
ENST00000420892.1:c.314T>C ENSP00000412676.1:p.Leu105Pro
NM_002775.4:c.1091T>C NP_002766.1:p.Leu364Pro
NM_002775.5:c.1091T>C MANE Select NP_002766.1:p.Leu364Pro