Canonical Allele Identifier: CA378585449
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122506748-G-T
MyVariant Identifiers: chr10:g.124266264G>T (hg19) chr10:g.122506748G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506748G>T , CM000672.2:g.122506748G>T GRCh38
NC_000010.10:g.124266264G>T , CM000672.1:g.124266264G>T GRCh37
NC_000010.9:g.124256254G>T NCBI36
NG_011554.1:g.50224G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.835G>T MANE Select ENSP00000357980.3:p.Val279Leu
ENST00000648167.1:c.517G>T ENSP00000498033.1:p.Val173Leu
ENST00000368984.7:c.835G>T ENSP00000357980.3:p.Val279Leu
ENST00000420892.1:c.58G>T ENSP00000412676.1:p.Val20Leu
NM_002775.4:c.835G>T NP_002766.1:p.Val279Leu
NM_002775.5:c.835G>T MANE Select NP_002766.1:p.Val279Leu
Search 100 bp 5'
Search 100 bp 3'