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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:
CA16617055
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418536
ClinVar RCV Id:
RCV000478468
dbSNP Id:
rs1064793288
MyVariant Identifiers:
chr1:g.215956094G>T (hg19)
chr1:g.215782752G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215782752G>T , CM000663.2:g.215782752G>T
GRCh38
NC_000001.10:g.215956094G>T , CM000663.1:g.215956094G>T
GRCh37
NC_000001.9:g.214022717G>T
NCBI36
NG_009497.1:g.645645C>A
NG_009497.2:g.645697C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.10571C>A
MANE Select
ENSP00000305941.3:p.Pro3524His
ENST00000674083.1:c.10571C>A
ENSP00000501296.1:p.Pro3524His
ENST00000307340.7:c.10571C>A
ENSP00000305941.3:p.Pro3524His
NM_206933.2:c.10571C>A
NP_996816.2:p.Pro3524His
NM_206933.3:c.10571C>A
NP_996816.2:p.Pro3524His
NM_206933.4:c.10571C>A
MANE Select
NP_996816.3:p.Pro3524His
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