Canonical Allele Identifier: CA5726032
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs201461807
ExAC: 10:124268175 G / A
gnomAD v2: 10-124268175-G-A
gnomAD v3: 10-122508659-G-A
gnomAD v4: 10-122508659-G-A
COSMIC: COSM4691522
MyVariant Identifiers: chr10:g.124268175G>A (hg19) chr10:g.122508659G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508659G>A , CM000672.2:g.122508659G>A GRCh38
NC_000010.10:g.124268175G>A , CM000672.1:g.124268175G>A GRCh37
NC_000010.9:g.124258165G>A NCBI36
NG_011554.1:g.52135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1009G>A MANE Select ENSP00000357980.3:p.Gly337Ser
ENST00000648167.1:c.691G>A ENSP00000498033.1:p.Gly231Ser
ENST00000368984.7:c.1009G>A ENSP00000357980.3:p.Gly337Ser
ENST00000420892.1:c.232G>A ENSP00000412676.1:p.Gly78Ser
NM_002775.4:c.1009G>A NP_002766.1:p.Gly337Ser
NM_002775.5:c.1009G>A MANE Select NP_002766.1:p.Gly337Ser
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Search 100 bp 3'