Canonical Allele Identifier: CA5725780

Gene: HTRA1

Linked Data

• dbSNP Id: rs760974275
• ExAC: 10:124221147 C / T
• gnomAD v2: 10-124221147-C-T
• gnomAD v4: 10-122461631-C-T
• MyVariant Identifiers: chr10:g.124221147C>T (hg19) ; chr10:g.122461631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461631C>T , CM000672.2:g.122461631C>T	GRCh38
NC_000010.10:g.124221147C>T , CM000672.1:g.124221147C>T	GRCh37
NC_000010.9:g.124211137C>T	NCBI36
NG_011554.1:g.5107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.-22C>T MANE Select	ENSP00000357980.3:n.-22C>T
ENST00000648167.1:c.154+2922C>T	ENSP00000498033.1:n.154+2922C>T
ENST00000368984.7:c.-22C>T	ENSP00000357980.3:n.-22C>T
NM_002775.4:c.-22C>T	NP_002766.1:n.-22C>T
NM_002775.5:c.-22C>T MANE Select	NP_002766.1:n.-22C>T