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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:
CA394316656
Gene: ABCA3
HGNC
NCBI
Linked Data
dbSNP Id:
rs780850241
gnomAD v2:
16-2335511-C-T
gnomAD v4:
16-2285510-C-T
MyVariant Identifiers:
chr16:g.2335511C>T (hg19)
chr16:g.2285510C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.2285510C>T , CM000678.2:g.2285510C>T
GRCh38
NC_000016.9:g.2335511C>T , CM000678.1:g.2335511C>T
GRCh37
NC_000016.8:g.2275512C>T
NCBI36
NG_011790.1:g.60237G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000301732.10:c.3415G>A
MANE Select
ENSP00000301732.5:p.Ala1139Thr
ENST00000301732.9:c.3415G>A
ENSP00000301732.5:p.Ala1139Thr
ENST00000382381.7:c.3241G>A
ENSP00000371818.3:p.Ala1081Thr
NM_001089.2:c.3415G>A
NP_001080.2:p.Ala1139Thr
NM_001089.3:c.3415G>A
MANE Select
NP_001080.2:p.Ala1139Thr
Search 100 bp 5'
Search 100 bp 3'