Canonical Allele Identifier: CA5726045

Gene: HTRA1

Linked Data

• dbSNP Id: rs780392814
• ExAC: 10:124268279 G / A
• gnomAD v2: 10-124268279-G-A
• gnomAD v4: 10-122508763-G-A
• MyVariant Identifiers: chr10:g.124268279G>A (hg19) ; chr10:g.122508763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508763G>A , CM000672.2:g.122508763G>A	GRCh38
NC_000010.10:g.124268279G>A , CM000672.1:g.124268279G>A	GRCh37
NC_000010.9:g.124258269G>A	NCBI36
NG_011554.1:g.52239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.1113G>A MANE Select	ENSP00000357980.3:p.Gln371=
ENST00000648167.1:c.795G>A	ENSP00000498033.1:p.Gln265=
ENST00000368984.7:c.1113G>A	ENSP00000357980.3:p.Gln371=
ENST00000420892.1:c.336G>A	ENSP00000412676.1:p.Gln112=
NM_002775.4:c.1113G>A	NP_002766.1:p.Gln371=
NM_002775.5:c.1113G>A MANE Select	NP_002766.1:p.Gln371=