Canonical Allele Identifier: CA5725782

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 877206
• ClinVar RCV Id: RCV001102735 ; RCV001815498
• dbSNP Id: rs761008513
• ExAC: 10:124221180 G / T
• gnomAD v2: 10-124221180-G-T
• gnomAD v3: 10-122461664-G-T
• gnomAD v4: 10-122461664-G-T
• MyVariant Identifiers: chr10:g.124221180G>T (hg19) ; chr10:g.122461664G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461664G>T , CM000672.2:g.122461664G>T	GRCh38
NC_000010.10:g.124221180G>T , CM000672.1:g.124221180G>T	GRCh37
NC_000010.9:g.124211170G>T	NCBI36
NG_011554.1:g.5140G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.12G>T MANE Select	ENSP00000357980.3:p.Pro4=
ENST00000648167.1:c.154+2955G>T	ENSP00000498033.1:n.154+2955G>T
ENST00000368984.7:c.12G>T	ENSP00000357980.3:p.Pro4=
NM_002775.4:c.12G>T	NP_002766.1:p.Pro4=
NM_002775.5:c.12G>T MANE Select	NP_002766.1:p.Pro4=