Canonical Allele Identifier: CA378606428
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1379646053
gnomAD v2: 10-124221610-A-C
gnomAD v4: 10-122462094-A-C
MyVariant Identifiers: chr10:g.124221610A>C (hg19) chr10:g.122462094A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462094A>C , CM000672.2:g.122462094A>C GRCh38
NC_000010.10:g.124221610A>C , CM000672.1:g.124221610A>C GRCh37
NC_000010.9:g.124211600A>C NCBI36
NG_011554.1:g.5570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.442A>C MANE Select ENSP00000357980.3:p.Ile148Leu
ENST00000648167.1:c.154+3385A>C ENSP00000498033.1:n.154+3385A>C
ENST00000368984.7:c.442A>C ENSP00000357980.3:p.Ile148Leu
NM_002775.4:c.442A>C NP_002766.1:p.Ile148Leu
NM_002775.5:c.442A>C MANE Select NP_002766.1:p.Ile148Leu
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