Canonical Allele Identifier: CA596578969

Gene: HTRA1

Linked Data

• dbSNP Id: rs1262451386
• gnomAD v2: 10-124221123-G-C
• gnomAD v3: 10-122461607-G-C
• gnomAD v4: 10-122461607-G-C
• MyVariant Identifiers: chr10:g.124221123G>C (hg19) ; chr10:g.122461607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461607G>C , CM000672.2:g.122461607G>C	GRCh38
NC_000010.10:g.124221123G>C , CM000672.1:g.124221123G>C	GRCh37
NC_000010.9:g.124211113G>C	NCBI36
NG_011554.1:g.5083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.-46G>C MANE Select	ENSP00000357980.3:n.-46G>C
ENST00000648167.1:c.154+2898G>C	ENSP00000498033.1:n.154+2898G>C
ENST00000368984.7:c.-46G>C	ENSP00000357980.3:n.-46G>C
NM_002775.4:c.-46G>C	NP_002766.1:n.-46G>C
NM_002775.5:c.-46G>C MANE Select	NP_002766.1:n.-46G>C