Canonical Allele Identifier: CA596378740

Gene: HTRA1

Linked Data

• dbSNP Id: rs1407205854
• gnomAD v2: 10-124256356-A-G
• gnomAD v3: 10-122496840-A-G
• gnomAD v4: 10-122496840-A-G
• MyVariant Identifiers: chr10:g.124256356A>G (hg19) ; chr10:g.122496840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122496840A>G , CM000672.2:g.122496840A>G	GRCh38
NC_000010.10:g.124256356A>G , CM000672.1:g.124256356A>G	GRCh37
NC_000010.9:g.124246346A>G	NCBI36
NG_011554.1:g.40316A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.777+7214A>G MANE Select	ENSP00000357980.3:n.777+7214A>G
ENST00000648167.1:c.459+7214A>G	ENSP00000498033.1:n.459+7214A>G
ENST00000368984.7:c.777+7214A>G	ENSP00000357980.3:n.777+7214A>G
NM_002775.4:c.777+7214A>G	NP_002766.1:n.777+7214A>G
NM_002775.5:c.777+7214A>G MANE Select	NP_002766.1:n.777+7214A>G