Canonical Allele Identifier: CA596578968

Gene: HTRA1

Linked Data

• dbSNP Id: rs1203102671
• gnomAD v2: 10-124221122-C-T
• gnomAD v3: 10-122461606-C-T
• gnomAD v4: 10-122461606-C-T
• MyVariant Identifiers: chr10:g.124221122C>T (hg19) ; chr10:g.122461606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461606C>T , CM000672.2:g.122461606C>T	GRCh38
NC_000010.10:g.124221122C>T , CM000672.1:g.124221122C>T	GRCh37
NC_000010.9:g.124211112C>T	NCBI36
NG_011554.1:g.5082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.-47C>T MANE Select	ENSP00000357980.3:n.-47C>T
ENST00000648167.1:c.154+2897C>T	ENSP00000498033.1:n.154+2897C>T
ENST00000368984.7:c.-47C>T	ENSP00000357980.3:n.-47C>T
NM_002775.4:c.-47C>T	NP_002766.1:n.-47C>T
NM_002775.5:c.-47C>T MANE Select	NP_002766.1:n.-47C>T