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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
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Canonical Allele Identifier:
CA344848146
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438037
ClinVar RCV Id:
RCV000504889
RCV001376751
RCV001376218
RCV001834625
dbSNP Id:
rs1285853856
MyVariant Identifiers:
chr1:g.215972249C>A (hg19)
chr1:g.215798907C>A (hg38)
PubMed:
PMID:25133613
PMID:28041643
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215798907C>A , CM000663.2:g.215798907C>A
GRCh38
NC_000001.10:g.215972249C>A , CM000663.1:g.215972249C>A
GRCh37
NC_000001.9:g.214038872C>A
NCBI36
NG_009497.1:g.629490G>T
NG_009497.2:g.629542G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307340.8:c.9958G>T
MANE Select
ENSP00000305941.3:p.Gly3320Cys
ENST00000674083.1:c.9958G>T
ENSP00000501296.1:p.Gly3320Cys
ENST00000307340.7:c.9958G>T
ENSP00000305941.3:p.Gly3320Cys
NM_206933.2:c.9958G>T
NP_996816.2:p.Gly3320Cys
NM_206933.3:c.9958G>T
NP_996816.2:p.Gly3320Cys
NM_206933.4:c.9958G>T
MANE Select
NP_996816.3:p.Gly3320Cys
Search 100 bp 5'
Search 100 bp 3'