Canonical Allele Identifier: CA378606358
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122462059-G-T
MyVariant Identifiers: chr10:g.124221575G>T (hg19) chr10:g.122462059G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462059G>T , CM000672.2:g.122462059G>T GRCh38
NC_000010.10:g.124221575G>T , CM000672.1:g.124221575G>T GRCh37
NC_000010.9:g.124211565G>T NCBI36
NG_011554.1:g.5535G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.407G>T MANE Select ENSP00000357980.3:p.Ser136Ile
ENST00000648167.1:c.154+3350G>T ENSP00000498033.1:n.154+3350G>T
ENST00000368984.7:c.407G>T ENSP00000357980.3:p.Ser136Ile
NM_002775.4:c.407G>T NP_002766.1:p.Ser136Ile
NM_002775.5:c.407G>T MANE Select NP_002766.1:p.Ser136Ile
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