Canonical Allele Identifier: CA378586385
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508669T>G , CM000672.2:g.122508669T>G GRCh38
NC_000010.10:g.124268185T>G , CM000672.1:g.124268185T>G GRCh37
NC_000010.9:g.124258175T>G NCBI36
NG_011554.1:g.52145T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1019T>G MANE Select ENSP00000357980.3:p.Ile340Ser
ENST00000648167.1:c.701T>G ENSP00000498033.1:p.Ile234Ser
ENST00000368984.7:c.1019T>G ENSP00000357980.3:p.Ile340Ser
ENST00000420892.1:c.242T>G ENSP00000412676.1:p.Ile81Ser
NM_002775.4:c.1019T>G NP_002766.1:p.Ile340Ser
NM_002775.5:c.1019T>G MANE Select NP_002766.1:p.Ile340Ser