Canonical Allele Identifier: CA471666978
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124266380C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506864C>T , CM000672.2:g.122506864C>T GRCh38
NC_000010.10:g.124266380C>T , CM000672.1:g.124266380C>T GRCh37
NC_000010.9:g.124256370C>T NCBI36
NG_011554.1:g.50340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.951C>T MANE Select ENSP00000357980.3:p.Ile317=
ENST00000648167.1:c.633C>T ENSP00000498033.1:p.Ile211=
ENST00000368984.7:c.951C>T ENSP00000357980.3:p.Ile317=
ENST00000420892.1:c.174C>T ENSP00000412676.1:p.Ile58=
NM_002775.4:c.951C>T NP_002766.1:p.Ile317=
NM_002775.5:c.951C>T MANE Select NP_002766.1:p.Ile317=