Canonical Allele Identifier: CA341901

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 21325
• ClinVar RCV Id: RCV000020490 ; RCV000265972 ; RCV001515967 ; RCV001794460
• dbSNP Id: rs2293870
• ExAC: 10:124221276 G / C
• gnomAD v2: 10-124221276-G-C
• gnomAD v3: 10-122461760-G-C
• gnomAD v4: 10-122461760-G-C
• MyVariant Identifiers: chr10:g.124221276G>C (hg19) ; chr10:g.122461760G>C (hg38)
• PubMed: PMID:20437615

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461760G>C , CM000672.2:g.122461760G>C	GRCh38
NC_000010.10:g.124221276G>C , CM000672.1:g.124221276G>C	GRCh37
NC_000010.9:g.124211266G>C	NCBI36
NG_011554.1:g.5236G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.108G>C MANE Select	ENSP00000357980.3:p.Gly36=
ENST00000648167.1:c.154+3051G>C	ENSP00000498033.1:n.154+3051G>C
ENST00000368984.7:c.108G>C	ENSP00000357980.3:p.Gly36=
NM_002775.4:c.108G>C	NP_002766.1:p.Gly36=
NM_002775.5:c.108G>C MANE Select	NP_002766.1:p.Gly36=