Canonical Allele Identifier: CA2631188671
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2289375-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289375A>G , CM000678.2:g.2289375A>G GRCh38
NC_000016.9:g.2339376A>G , CM000678.1:g.2339376A>G GRCh37
NC_000016.8:g.2279377A>G NCBI36
NG_011790.1:g.56372T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+59T>C MANE Select ENSP00000301732.5:n.2700+59T>C
ENST00000301732.9:c.2700+59T>C ENSP00000301732.5:n.2700+59T>C
ENST00000382381.7:c.2526+59T>C ENSP00000371818.3:n.2526+59T>C
ENST00000563623.5:n.3322T>C
NM_001089.2:c.2700+59T>C NP_001080.2:n.2700+59T>C
NM_001089.3:c.2700+59T>C MANE Select NP_001080.2:n.2700+59T>C
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