Canonical Allele Identifier: CA378585778
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs975329720
gnomAD v2: 10-124266354-C-G
gnomAD v4: 10-122506838-C-G
MyVariant Identifiers: chr10:g.124266354C>G (hg19) chr10:g.122506838C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506838C>G , CM000672.2:g.122506838C>G GRCh38
NC_000010.10:g.124266354C>G , CM000672.1:g.124266354C>G GRCh37
NC_000010.9:g.124256344C>G NCBI36
NG_011554.1:g.50314C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.925C>G MANE Select ENSP00000357980.3:p.Leu309Val
ENST00000648167.1:c.607C>G ENSP00000498033.1:p.Leu203Val
ENST00000368984.7:c.925C>G ENSP00000357980.3:p.Leu309Val
ENST00000420892.1:c.148C>G ENSP00000412676.1:p.Leu50Val
NM_002775.4:c.925C>G NP_002766.1:p.Leu309Val
NM_002775.5:c.925C>G MANE Select NP_002766.1:p.Leu309Val
Search 100 bp 5'
Search 100 bp 3'