Canonical Allele Identifier: CA660910883

Gene: HTRA1

Linked Data

• dbSNP Id: rs1274711682
• gnomAD v4: 10-122506938-G-T
• MyVariant Identifiers: chr10:g.124266454G>T (hg19) ; chr10:g.122506938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506938G>T , CM000672.2:g.122506938G>T	GRCh38
NC_000010.10:g.124266454G>T , CM000672.1:g.124266454G>T	GRCh37
NC_000010.9:g.124256444G>T	NCBI36
NG_011554.1:g.50414G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.972+53G>T MANE Select	ENSP00000357980.3:n.972+53G>T
ENST00000648167.1:c.654+53G>T	ENSP00000498033.1:n.654+53G>T
ENST00000368984.7:c.972+53G>T	ENSP00000357980.3:n.972+53G>T
ENST00000420892.1:c.195+53G>T	ENSP00000412676.1:n.195+53G>T
NM_002775.4:c.972+53G>T	NP_002766.1:n.972+53G>T
NM_002775.5:c.972+53G>T MANE Select	NP_002766.1:n.972+53G>T