Canonical Allele Identifier: CA378585374
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184139
ClinVar RCV Id: RCV001542097
dbSNP Id: rs748074236
MyVariant Identifiers: chr10:g.124266249C>G (hg19) chr10:g.122506733C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506733C>G , CM000672.2:g.122506733C>G GRCh38
NC_000010.10:g.124266249C>G , CM000672.1:g.124266249C>G GRCh37
NC_000010.9:g.124256239C>G NCBI36
NG_011554.1:g.50209C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.820C>G MANE Select ENSP00000357980.3:p.Arg274Gly
ENST00000648167.1:c.502C>G ENSP00000498033.1:p.Arg168Gly
ENST00000368984.7:c.820C>G ENSP00000357980.3:p.Arg274Gly
ENST00000420892.1:c.43C>G ENSP00000412676.1:p.Arg15Gly
NM_002775.4:c.820C>G NP_002766.1:p.Arg274Gly
NM_002775.5:c.820C>G MANE Select NP_002766.1:p.Arg274Gly
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