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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:
CA493135437
Gene: ABCA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2958634
ClinVar RCV Id:
RCV003816857
dbSNP Id:
rs2093668456
gnomAD v3:
16-2289467-C-T
gnomAD v4:
16-2289467-C-T
COSMIC:
COSM4917218
MyVariant Identifiers:
chr16:g.2339468C>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.2289467C>T , CM000678.2:g.2289467C>T
GRCh38
NC_000016.9:g.2339468C>T , CM000678.1:g.2339468C>T
GRCh37
NC_000016.8:g.2279469C>T
NCBI36
NG_011790.1:g.56280G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000301732.10:c.2667G>A
MANE Select
ENSP00000301732.5:p.Glu889=
ENST00000301732.9:c.2667G>A
ENSP00000301732.5:p.Glu889=
ENST00000382381.7:c.2493G>A
ENSP00000371818.3:p.Glu831=
ENST00000563623.5:n.3230G>A
NM_001089.2:c.2667G>A
NP_001080.2:p.Glu889=
NM_001089.3:c.2667G>A
MANE Select
NP_001080.2:p.Glu889=
Search 100 bp 5'
Search 100 bp 3'