Canonical Allele Identifier: CA378581129

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124249029G>T (hg19) ; chr10:g.122489513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122489513G>T , CM000672.2:g.122489513G>T	GRCh38
NC_000010.10:g.124249029G>T , CM000672.1:g.124249029G>T	GRCh37
NC_000010.9:g.124239019G>T	NCBI36
NG_011554.1:g.32989G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.664G>T MANE Select	ENSP00000357980.3:p.Val222Leu
ENST00000648167.1:c.346G>T	ENSP00000498033.1:p.Val116Leu
ENST00000368984.7:c.664G>T	ENSP00000357980.3:p.Val222Leu
NM_002775.4:c.664G>T	NP_002766.1:p.Val222Leu
NM_002775.5:c.664G>T MANE Select	NP_002766.1:p.Val222Leu