Canonical Allele Identifier: CA378585213
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1304030503

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506700C>G , CM000672.2:g.122506700C>G GRCh38
NC_000010.10:g.124266216C>G , CM000672.1:g.124266216C>G GRCh37
NC_000010.9:g.124256206C>G NCBI36
NG_011554.1:g.50176C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.787C>G MANE Select ENSP00000357980.3:p.Pro263Ala
ENST00000648167.1:c.469C>G ENSP00000498033.1:p.Pro157Ala
ENST00000368984.7:c.787C>G ENSP00000357980.3:p.Pro263Ala
ENST00000420892.1:c.10C>G ENSP00000412676.1:p.Pro4Ala
NM_002775.4:c.787C>G NP_002766.1:p.Pro263Ala
NM_002775.5:c.787C>G MANE Select NP_002766.1:p.Pro263Ala