Canonical Allele Identifier: CA378586674

Gene: HTRA1

Linked Data

• gnomAD v4: 10-122508717-C-T
• MyVariant Identifiers: chr10:g.124268233C>T (hg19) ; chr10:g.122508717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508717C>T , CM000672.2:g.122508717C>T	GRCh38
NC_000010.10:g.124268233C>T , CM000672.1:g.124268233C>T	GRCh37
NC_000010.9:g.124258223C>T	NCBI36
NG_011554.1:g.52193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1067C>T MANE Select	ENSP00000357980.3:p.Pro356Leu
ENST00000648167.1:c.749C>T	ENSP00000498033.1:p.Pro250Leu
ENST00000368984.7:c.1067C>T	ENSP00000357980.3:p.Pro356Leu
ENST00000420892.1:c.290C>T	ENSP00000412676.1:p.Pro97Leu
NM_002775.4:c.1067C>T	NP_002766.1:p.Pro356Leu
NM_002775.5:c.1067C>T MANE Select	NP_002766.1:p.Pro356Leu