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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:
CA226908
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99065
ClinVar RCV Id:
RCV000085408
RCV000210980
RCV000826094
RCV003905081
dbSNP Id:
rs150774447
ExAC:
1:94577135 C / T
gnomAD v2:
1-94577135-C-T
gnomAD v3:
1-94111579-C-T
gnomAD v4:
1-94111579-C-T
MyVariant Identifiers:
chr1:g.94577135C>T (hg19)
chr1:g.94111579C>T (hg38)
PubMed:
PMID:9973280
PMID:19217903
PMID:23891399
PMID:25082885
PMID:25472526
PMID:26527198
PMID:28118664
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94111579C>T , CM000663.2:g.94111579C>T
GRCh38
NC_000001.10:g.94577135C>T , CM000663.1:g.94577135C>T
GRCh37
NC_000001.9:g.94349723C>T
NCBI36
NG_009073.1:g.14571G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000370225.4:c.161G>A
MANE Select
ENSP00000359245.3:p.Cys54Tyr
ENST00000649773.1:c.161G>A
ENSP00000496882.1:p.Cys54Tyr
ENST00000370225.3:c.161G>A
ENSP00000359245.3:p.Cys54Tyr
NM_000350.2:c.161G>A
NP_000341.2:p.Cys54Tyr
NM_000350.3:c.161G>A
MANE Select
NP_000341.2:p.Cys54Tyr
Search 100 bp 5'
Search 100 bp 3'