Canonical Allele Identifier: CA596578994

Gene: HTRA1

Linked Data

• dbSNP Id: rs1377452627
• gnomAD v2: 10-124221278-GC-G
• gnomAD v4: 10-122461762-GC-G
• MyVariant Identifiers: chr10:g.124221279del (hg19) ; chr10:g.122461763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461765del , CM000672.2:g.122461765del	GRCh38
NC_000010.10:g.124221281del , CM000672.1:g.124221281del	GRCh37
NC_000010.9:g.124211271del	NCBI36
NG_011554.1:g.5241del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.113del MANE Select	ENSP00000357980.3:p.Pro38GlnfsTer?
ENST00000648167.1:c.154+3056del	ENSP00000498033.1:n.154+3056del
ENST00000368984.7:c.113del	ENSP00000357980.3:p.Pro38GlnfsTer?
NM_002775.4:c.113del	NP_002766.1:p.Pro38GlnfsTer?
NM_002775.5:c.113del MANE Select	NP_002766.1:p.Pro38GlnfsTer?