×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA378581114
Gene: HTRA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
870484
ClinVar RCV Id:
RCV001090042
dbSNP Id:
rs1357930157
gnomAD v2:
10-124249025-C-G
gnomAD v4:
10-122489509-C-G
MyVariant Identifiers:
chr10:g.124249025C>G (hg19)
chr10:g.122489509C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122489509C>G , CM000672.2:g.122489509C>G
GRCh38
NC_000010.10:g.124249025C>G , CM000672.1:g.124249025C>G
GRCh37
NC_000010.9:g.124239015C>G
NCBI36
NG_011554.1:g.32985C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000368984.8:c.660C>G
MANE Select
ENSP00000357980.3:p.His220Gln
ENST00000648167.1:c.342C>G
ENSP00000498033.1:p.His114Gln
ENST00000368984.7:c.660C>G
ENSP00000357980.3:p.His220Gln
NM_002775.4:c.660C>G
NP_002766.1:p.His220Gln
NM_002775.5:c.660C>G
MANE Select
NP_002766.1:p.His220Gln
Search 100 bp 5'
Search 100 bp 3'