Canonical Allele Identifier: CA2789767442
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122496760C>T , CM000672.2:g.122496760C>T GRCh38
NC_000010.10:g.124256276C>T , CM000672.1:g.124256276C>T GRCh37
NC_000010.9:g.124246266C>T NCBI36
NG_011554.1:g.40236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.777+7134C>T MANE Select ENSP00000357980.3:n.777+7134C>T
ENST00000648167.1:c.459+7134C>T ENSP00000498033.1:n.459+7134C>T
ENST00000368984.7:c.777+7134C>T ENSP00000357980.3:n.777+7134C>T
NM_002775.4:c.777+7134C>T NP_002766.1:n.777+7134C>T
NM_002775.5:c.777+7134C>T MANE Select NP_002766.1:n.777+7134C>T