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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:
CA246929
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198341
ClinVar RCV Id:
RCV000216357
RCV000879539
RCV001073767
RCV001449650
RCV003917674
dbSNP Id:
rs138879998
ExAC:
1:215847775 C / T
gnomAD v2:
1-215847775-C-T
gnomAD v3:
1-215674433-C-T
gnomAD v4:
1-215674433-C-T
MyVariant Identifiers:
chr1:g.215847775C>T (hg19)
chr1:g.215674433C>T (hg38)
PubMed:
PMID:23891399
PMID:24938718
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215674433C>T , CM000663.2:g.215674433C>T
GRCh38
NC_000001.10:g.215847775C>T , CM000663.1:g.215847775C>T
GRCh37
NC_000001.9:g.213914398C>T
NCBI36
NG_009497.1:g.753964G>A
NG_009497.2:g.754016G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.13478G>A
MANE Select
ENSP00000305941.3:p.Arg4493His
ENST00000674083.1:c.13478G>A
ENSP00000501296.1:p.Arg4493His
ENST00000307340.7:c.13478G>A
ENSP00000305941.3:p.Arg4493His
NM_206933.2:c.13478G>A
NP_996816.2:p.Arg4493His
NM_206933.3:c.13478G>A
NP_996816.2:p.Arg4493His
NM_206933.4:c.13478G>A
MANE Select
NP_996816.3:p.Arg4493His
Search 100 bp 5'
Search 100 bp 3'