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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:
CA119212
Gene: ABCA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8011
ClinVar RCV Id:
RCV000008475
dbSNP Id:
rs121909181
gnomAD v3:
16-2285499-C-T
gnomAD v4:
16-2285499-C-T
MyVariant Identifiers:
chr16:g.2335500C>T (hg19)
chr16:g.2285499C>T (hg38)
PubMed:
PMID:15044640
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.2285499C>T , CM000678.2:g.2285499C>T
GRCh38
NC_000016.9:g.2335500C>T , CM000678.1:g.2335500C>T
GRCh37
NC_000016.8:g.2275501C>T
NCBI36
NG_011790.1:g.60248G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000301732.10:c.3426G>A
MANE Select
ENSP00000301732.5:p.Trp1142Ter
ENST00000301732.9:c.3426G>A
ENSP00000301732.5:p.Trp1142Ter
ENST00000382381.7:c.3252G>A
ENSP00000371818.3:p.Trp1084Ter
NM_001089.2:c.3426G>A
NP_001080.2:p.Trp1142Ter
NM_001089.3:c.3426G>A
MANE Select
NP_001080.2:p.Trp1142Ter
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