Canonical Allele Identifier: CA276854163
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2833730
ClinVar RCV Id: RCV003692137
dbSNP Id: rs767975613
gnomAD v4: 16-2326419-G-A
MyVariant Identifiers: chr16:g.2376420G>A (hg19) chr16:g.2326419G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326419G>A , CM000678.2:g.2326419G>A GRCh38
NC_000016.9:g.2376420G>A , CM000678.1:g.2376420G>A GRCh37
NC_000016.8:g.2316421G>A NCBI36
NG_011790.1:g.19328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.48C>T MANE Select ENSP00000301732.5:p.Thr16=
ENST00000301732.9:c.48C>T ENSP00000301732.5:p.Thr16=
ENST00000382381.7:c.48C>T ENSP00000371818.3:p.Thr16=
ENST00000563623.5:n.611C>T
ENST00000567910.1:c.48C>T ENSP00000454397.1:p.Thr16=
NM_001089.2:c.48C>T NP_001080.2:p.Thr16=
NM_001089.3:c.48C>T MANE Select NP_001080.2:p.Thr16=
Search 100 bp 5'
Search 100 bp 3'