Canonical Allele Identifier: CA378585663

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124266316T>G (hg19) ; chr10:g.122506800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506800T>G , CM000672.2:g.122506800T>G	GRCh38
NC_000010.10:g.124266316T>G , CM000672.1:g.124266316T>G	GRCh37
NC_000010.9:g.124256306T>G	NCBI36
NG_011554.1:g.50276T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.887T>G MANE Select	ENSP00000357980.3:p.Ile296Ser
ENST00000648167.1:c.569T>G	ENSP00000498033.1:p.Ile190Ser
ENST00000368984.7:c.887T>G	ENSP00000357980.3:p.Ile296Ser
ENST00000420892.1:c.110T>G	ENSP00000412676.1:p.Ile37Ser
NM_002775.4:c.887T>G	NP_002766.1:p.Ile296Ser
NM_002775.5:c.887T>G MANE Select	NP_002766.1:p.Ile296Ser