Canonical Allele Identifier: CA5725966
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs762018158
ExAC: 10:124266357 C / G
gnomAD v2: 10-124266357-C-G
gnomAD v4: 10-122506841-C-G
MyVariant Identifiers: chr10:g.124266357C>G (hg19) chr10:g.122506841C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506841C>G , CM000672.2:g.122506841C>G GRCh38
NC_000010.10:g.124266357C>G , CM000672.1:g.124266357C>G GRCh37
NC_000010.9:g.124256347C>G NCBI36
NG_011554.1:g.50317C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.928C>G MANE Select ENSP00000357980.3:p.Arg310Gly
ENST00000648167.1:c.610C>G ENSP00000498033.1:p.Arg204Gly
ENST00000368984.7:c.928C>G ENSP00000357980.3:p.Arg310Gly
ENST00000420892.1:c.151C>G ENSP00000412676.1:p.Arg51Gly
NM_002775.4:c.928C>G NP_002766.1:p.Arg310Gly
NM_002775.5:c.928C>G MANE Select NP_002766.1:p.Arg310Gly
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Search 100 bp 3'