Canonical Allele Identifier: CA378585571
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523577
ClinVar RCV Id: RCV001860485
dbSNP Id: rs1554952291
MyVariant Identifiers: chr10:g.124266294C>T (hg19) chr10:g.122506778C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506778C>T , CM000672.2:g.122506778C>T GRCh38
NC_000010.10:g.124266294C>T , CM000672.1:g.124266294C>T GRCh37
NC_000010.9:g.124256284C>T NCBI36
NG_011554.1:g.50254C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.865C>T MANE Select ENSP00000357980.3:p.Gln289Ter
ENST00000648167.1:c.547C>T ENSP00000498033.1:p.Gln183Ter
ENST00000368984.7:c.865C>T ENSP00000357980.3:p.Gln289Ter
ENST00000420892.1:c.88C>T ENSP00000412676.1:p.Gln30Ter
NM_002775.4:c.865C>T NP_002766.1:p.Gln289Ter
NM_002775.5:c.865C>T MANE Select NP_002766.1:p.Gln289Ter
Search 100 bp 5'
Search 100 bp 3'