Canonical Allele Identifier: CA973789782
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093753235
gnomAD v3: 16-2337213-C-G
gnomAD v4: 16-2337213-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2337213C>G , CM000678.2:g.2337213C>G GRCh38
NC_000016.9:g.2387214C>G , CM000678.1:g.2387214C>G GRCh37
NC_000016.8:g.2327215C>G NCBI36
NG_011790.1:g.8534G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-539+3360G>C MANE Select ENSP00000301732.5:n.-539+3360G>C
ENST00000301732.9:c.-539+3360G>C ENSP00000301732.5:n.-539+3360G>C
ENST00000382381.7:c.-539+3360G>C ENSP00000371818.3:n.-539+3360G>C
ENST00000563623.5:n.25+3360G>C
NM_001089.2:c.-539+3360G>C NP_001080.2:n.-539+3360G>C
NM_001089.3:c.-539+3360G>C MANE Select NP_001080.2:n.-539+3360G>C
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