Canonical Allele Identifier: CA5725784
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs765291040
ExAC: 10:124221190 C / A
gnomAD v2: 10-124221190-C-A
gnomAD v4: 10-122461674-C-A
MyVariant Identifiers: chr10:g.124221190C>A (hg19) chr10:g.122461674C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461674C>A , CM000672.2:g.122461674C>A GRCh38
NC_000010.10:g.124221190C>A , CM000672.1:g.124221190C>A GRCh37
NC_000010.9:g.124211180C>A NCBI36
NG_011554.1:g.5150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.22C>A MANE Select ENSP00000357980.3:p.Leu8Ile
ENST00000648167.1:c.154+2965C>A ENSP00000498033.1:n.154+2965C>A
ENST00000368984.7:c.22C>A ENSP00000357980.3:p.Leu8Ile
NM_002775.4:c.22C>A NP_002766.1:p.Leu8Ile
NM_002775.5:c.22C>A MANE Select NP_002766.1:p.Leu8Ile
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