Canonical Allele Identifier: CA378606407
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1368951427
gnomAD v2: 10-124221599-G-A
gnomAD v4: 10-122462083-G-A
MyVariant Identifiers: chr10:g.124221599G>A (hg19) chr10:g.122462083G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462083G>A , CM000672.2:g.122462083G>A GRCh38
NC_000010.10:g.124221599G>A , CM000672.1:g.124221599G>A GRCh37
NC_000010.9:g.124211589G>A NCBI36
NG_011554.1:g.5559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.431G>A MANE Select ENSP00000357980.3:p.Arg144Gln
ENST00000648167.1:c.154+3374G>A ENSP00000498033.1:n.154+3374G>A
ENST00000368984.7:c.431G>A ENSP00000357980.3:p.Arg144Gln
NM_002775.4:c.431G>A NP_002766.1:p.Arg144Gln
NM_002775.5:c.431G>A MANE Select NP_002766.1:p.Arg144Gln
Search 100 bp 5'
Search 100 bp 3'