Canonical Allele Identifier: CA340683

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 7488
• ClinVar RCV Id: RCV000007917 ; RCV001003543 ; RCV001003928 ; RCV001250521 ; RCV001851726
• dbSNP Id: rs113993970
• ExAC: 10:124266333 C / T
• gnomAD v2: 10-124266333-C-T
• gnomAD v3: 10-122506817-C-T
• gnomAD v4: 10-122506817-C-T
• MyVariant Identifiers: chr10:g.124266333C>T (hg19) ; chr10:g.122506817C>T (hg38)
• PubMed: PMID:19387015 ; PMID:20437615

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506817C>T , CM000672.2:g.122506817C>T	GRCh38
NC_000010.10:g.124266333C>T , CM000672.1:g.124266333C>T	GRCh37
NC_000010.9:g.124256323C>T	NCBI36
NG_011554.1:g.50293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.904C>T MANE Select	ENSP00000357980.3:p.Arg302Ter
ENST00000648167.1:c.586C>T	ENSP00000498033.1:p.Arg196Ter
ENST00000368984.7:c.904C>T	ENSP00000357980.3:p.Arg302Ter
ENST00000420892.1:c.127C>T	ENSP00000412676.1:p.Arg43Ter
NM_002775.4:c.904C>T	NP_002766.1:p.Arg302Ter
NM_002775.5:c.904C>T MANE Select	NP_002766.1:p.Arg302Ter