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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:
CA394305760
Gene: ABCA3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr16:g.2328350G>T (hg19)
chr16:g.2278349G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.2278349G>T , CM000678.2:g.2278349G>T
GRCh38
NC_000016.9:g.2328350G>T , CM000678.1:g.2328350G>T
GRCh37
NC_000016.8:g.2268351G>T
NCBI36
NG_011790.1:g.67398C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000301732.10:c.4657C>A
MANE Select
ENSP00000301732.5:p.Leu1553Ile
ENST00000301732.9:c.4657C>A
ENSP00000301732.5:p.Leu1553Ile
ENST00000382381.7:c.4483C>A
ENSP00000371818.3:p.Leu1495Ile
ENST00000566200.1:n.1178C>A
NM_001089.2:c.4657C>A
NP_001080.2:p.Leu1553Ile
NM_001089.3:c.4657C>A
MANE Select
NP_001080.2:p.Leu1553Ile
Search 100 bp 5'
Search 100 bp 3'