Canonical Allele Identifier: CA378606282
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462024C>G , CM000672.2:g.122462024C>G GRCh38
NC_000010.10:g.124221540C>G , CM000672.1:g.124221540C>G GRCh37
NC_000010.9:g.124211530C>G NCBI36
NG_011554.1:g.5500C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.372C>G MANE Select ENSP00000357980.3:p.Asn124Lys
ENST00000648167.1:c.154+3315C>G ENSP00000498033.1:n.154+3315C>G
ENST00000368984.7:c.372C>G ENSP00000357980.3:p.Asn124Lys
NM_002775.4:c.372C>G NP_002766.1:p.Asn124Lys
NM_002775.5:c.372C>G MANE Select NP_002766.1:p.Asn124Lys