Canonical Allele Identifier: CA7840309
Community Standard Title: NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2283209C>T , CM000678.2:g.2283209C>T GRCh38
NC_000016.9:g.2333210C>T , CM000678.1:g.2333210C>T GRCh37
NC_000016.8:g.2273211C>T NCBI36
NG_011790.1:g.62538G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001089.3:c.4012G>A MANE Select NP_001080.2:p.Ala1338Thr
ENST00000301732.10:c.4012G>A MANE Select ENSP00000301732.5:p.Ala1338Thr
NM_001089.2:c.4012G>A NP_001080.2:p.Ala1338Thr
ENST00000301732.9:c.4012G>A ENSP00000301732.5:p.Ala1338Thr
ENST00000382381.7:c.3838G>A ENSP00000371818.3:p.Ala1280Thr
ENST00000566200.1:n.533G>A
ENST00000569062.1:n.764G>A
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