Canonical Allele Identifier: CA5726041

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 3043534
• ClinVar RCV Id: RCV003934295
• dbSNP Id: rs752097769
• ExAC: 10:124268261 G / A
• gnomAD v2: 10-124268261-G-A
• gnomAD v4: 10-122508745-G-A
• COSMIC: COSM3806626
• MyVariant Identifiers: chr10:g.124268261G>A (hg19) ; chr10:g.122508745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508745G>A , CM000672.2:g.122508745G>A	GRCh38
NC_000010.10:g.124268261G>A , CM000672.1:g.124268261G>A	GRCh37
NC_000010.9:g.124258251G>A	NCBI36
NG_011554.1:g.52221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1095G>A MANE Select	ENSP00000357980.3:p.Thr365=
ENST00000648167.1:c.777G>A	ENSP00000498033.1:p.Thr259=
ENST00000368984.7:c.1095G>A	ENSP00000357980.3:p.Thr365=
ENST00000420892.1:c.318G>A	ENSP00000412676.1:p.Thr106=
NM_002775.4:c.1095G>A	NP_002766.1:p.Thr365=
NM_002775.5:c.1095G>A MANE Select	NP_002766.1:p.Thr365=