Canonical Allele Identifier: CA378606313
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122462038-T-C
MyVariant Identifiers: chr10:g.124221554T>C (hg19) chr10:g.122462038T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462038T>C , CM000672.2:g.122462038T>C GRCh38
NC_000010.10:g.124221554T>C , CM000672.1:g.124221554T>C GRCh37
NC_000010.9:g.124211544T>C NCBI36
NG_011554.1:g.5514T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.386T>C MANE Select ENSP00000357980.3:p.Leu129Pro
ENST00000648167.1:c.154+3329T>C ENSP00000498033.1:n.154+3329T>C
ENST00000368984.7:c.386T>C ENSP00000357980.3:p.Leu129Pro
NM_002775.4:c.386T>C NP_002766.1:p.Leu129Pro
NM_002775.5:c.386T>C MANE Select NP_002766.1:p.Leu129Pro
Search 100 bp 5'
Search 100 bp 3'