Canonical Allele Identifier: CA5725840

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 585616
• ClinVar RCV Id: RCV000711025 ; RCV003235372
• dbSNP Id: rs781563777
• ExAC: 10:124248462 G / T
• gnomAD v2: 10-124248462-G-T
• gnomAD v4: 10-122488946-G-T
• MyVariant Identifiers: chr10:g.124248462G>T (hg19) ; chr10:g.122488946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122488946G>T , CM000672.2:g.122488946G>T	GRCh38
NC_000010.10:g.124248462G>T , CM000672.1:g.124248462G>T	GRCh37
NC_000010.9:g.124238452G>T	NCBI36
NG_011554.1:g.32422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.517G>T MANE Select	ENSP00000357980.3:p.Ala173Ser
ENST00000648167.1:c.199G>T	ENSP00000498033.1:p.Ala67Ser
ENST00000368984.7:c.517G>T	ENSP00000357980.3:p.Ala173Ser
NM_002775.4:c.517G>T	NP_002766.1:p.Ala173Ser
NM_002775.5:c.517G>T MANE Select	NP_002766.1:p.Ala173Ser