Canonical Allele Identifier: CA5725983

Gene: HTRA1

Linked Data

• dbSNP Id: rs373219331
• ExAC: 10:124266421 C / T
• gnomAD v2: 10-124266421-C-T
• gnomAD v3: 10-122506905-C-T
• gnomAD v4: 10-122506905-C-T
• MyVariant Identifiers: chr10:g.124266421C>T (hg19) ; chr10:g.122506905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506905C>T , CM000672.2:g.122506905C>T	GRCh38
NC_000010.10:g.124266421C>T , CM000672.1:g.124266421C>T	GRCh37
NC_000010.9:g.124256411C>T	NCBI36
NG_011554.1:g.50381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.972+20C>T MANE Select	ENSP00000357980.3:n.972+20C>T
ENST00000648167.1:c.654+20C>T	ENSP00000498033.1:n.654+20C>T
ENST00000368984.7:c.972+20C>T	ENSP00000357980.3:n.972+20C>T
ENST00000420892.1:c.195+20C>T	ENSP00000412676.1:n.195+20C>T
NM_002775.4:c.972+20C>T	NP_002766.1:n.972+20C>T
NM_002775.5:c.972+20C>T MANE Select	NP_002766.1:n.972+20C>T