Canonical Allele Identifier: CA378585758

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124266345G>T (hg19) ; chr10:g.122506829G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506829G>T , CM000672.2:g.122506829G>T	GRCh38
NC_000010.10:g.124266345G>T , CM000672.1:g.124266345G>T	GRCh37
NC_000010.9:g.124256335G>T	NCBI36
NG_011554.1:g.50305G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.916G>T MANE Select	ENSP00000357980.3:p.Glu306Ter
ENST00000648167.1:c.598G>T	ENSP00000498033.1:p.Glu200Ter
ENST00000368984.7:c.916G>T	ENSP00000357980.3:p.Glu306Ter
ENST00000420892.1:c.139G>T	ENSP00000412676.1:p.Glu47Ter
NM_002775.4:c.916G>T	NP_002766.1:p.Glu306Ter
NM_002775.5:c.916G>T MANE Select	NP_002766.1:p.Glu306Ter