Canonical Allele Identifier: CA596380253

Gene: HTRA1

Linked Data

• dbSNP Id: rs1194901582
• gnomAD v2: 10-124266682-C-T
• gnomAD v3: 10-122507166-C-T
• gnomAD v4: 10-122507166-C-T
• MyVariant Identifiers: chr10:g.124266682C>T (hg19) ; chr10:g.122507166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122507166C>T , CM000672.2:g.122507166C>T	GRCh38
NC_000010.10:g.124266682C>T , CM000672.1:g.124266682C>T	GRCh37
NC_000010.9:g.124256672C>T	NCBI36
NG_011554.1:g.50642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.973-204C>T MANE Select	ENSP00000357980.3:n.973-204C>T
ENST00000648167.1:c.655-204C>T	ENSP00000498033.1:n.655-204C>T
ENST00000368984.7:c.973-204C>T	ENSP00000357980.3:n.973-204C>T
ENST00000420892.1:c.196-204C>T	ENSP00000412676.1:n.196-204C>T
NM_002775.4:c.973-204C>T	NP_002766.1:n.973-204C>T
NM_002775.5:c.973-204C>T MANE Select	NP_002766.1:n.973-204C>T