Canonical Allele Identifier: CA5725985

Gene: HTRA1

Linked Data

• dbSNP Id: rs555349679
• ExAC: 10:124266422 G / C
• gnomAD v2: 10-124266422-G-C
• gnomAD v3: 10-122506906-G-C
• gnomAD v4: 10-122506906-G-C
• MyVariant Identifiers: chr10:g.124266422G>C (hg19) ; chr10:g.122506906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506906G>C , CM000672.2:g.122506906G>C	GRCh38
NC_000010.10:g.124266422G>C , CM000672.1:g.124266422G>C	GRCh37
NC_000010.9:g.124256412G>C	NCBI36
NG_011554.1:g.50382G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.972+21G>C MANE Select	ENSP00000357980.3:n.972+21G>C
ENST00000648167.1:c.654+21G>C	ENSP00000498033.1:n.654+21G>C
ENST00000368984.7:c.972+21G>C	ENSP00000357980.3:n.972+21G>C
ENST00000420892.1:c.195+21G>C	ENSP00000412676.1:n.195+21G>C
NM_002775.4:c.972+21G>C	NP_002766.1:n.972+21G>C
NM_002775.5:c.972+21G>C MANE Select	NP_002766.1:n.972+21G>C