Canonical Allele Identifier: CA5725938
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501480
ClinVar RCV Id: RCV002017499 RCV002479734 RCV002642139
dbSNP Id: rs748074236
ExAC: 10:124266249 C / T
gnomAD v2: 10-124266249-C-T
gnomAD v3: 10-122506733-C-T
gnomAD v4: 10-122506733-C-T
COSMIC: COSM4691520
MyVariant Identifiers: chr10:g.124266249C>T (hg19) chr10:g.122506733C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.820C>T MANE Select ENSP00000357980.3:p.Arg274Trp
ENST00000648167.1:c.502C>T ENSP00000498033.1:p.Arg168Trp
ENST00000368984.7:c.820C>T ENSP00000357980.3:p.Arg274Trp
ENST00000420892.1:c.43C>T ENSP00000412676.1:p.Arg15Trp
NM_002775.4:c.820C>T NP_002766.1:p.Arg274Trp
NM_002775.5:c.820C>T MANE Select NP_002766.1:p.Arg274Trp
Search 100 bp 5'
Search 100 bp 3'