Canonical Allele Identifier: CA5725805
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 299047
ClinVar RCV Id: RCV000285342
dbSNP Id: rs757237545
ExAC: 10:124221553 C / T
gnomAD v2: 10-124221553-C-T
gnomAD v3: 10-122462037-C-T
gnomAD v4: 10-122462037-C-T
MyVariant Identifiers: chr10:g.124221553C>T (hg19) chr10:g.122462037C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462037C>T , CM000672.2:g.122462037C>T GRCh38
NC_000010.10:g.124221553C>T , CM000672.1:g.124221553C>T GRCh37
NC_000010.9:g.124211543C>T NCBI36
NG_011554.1:g.5513C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.385C>T MANE Select ENSP00000357980.3:p.Leu129=
ENST00000648167.1:c.154+3328C>T ENSP00000498033.1:n.154+3328C>T
ENST00000368984.7:c.385C>T ENSP00000357980.3:p.Leu129=
NM_002775.4:c.385C>T NP_002766.1:p.Leu129=
NM_002775.5:c.385C>T MANE Select NP_002766.1:p.Leu129=
Search 100 bp 5'
Search 100 bp 3'