Canonical Allele Identifier: CA2575882662
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289364G>T , CM000678.2:g.2289364G>T GRCh38
NC_000016.9:g.2339365G>T , CM000678.1:g.2339365G>T GRCh37
NC_000016.8:g.2279366G>T NCBI36
NG_011790.1:g.56383C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+70C>A MANE Select ENSP00000301732.5:n.2700+70C>A
ENST00000301732.9:c.2700+70C>A ENSP00000301732.5:n.2700+70C>A
ENST00000382381.7:c.2526+70C>A ENSP00000371818.3:n.2526+70C>A
ENST00000563623.5:n.3333C>A
NM_001089.2:c.2700+70C>A NP_001080.2:n.2700+70C>A
NM_001089.3:c.2700+70C>A MANE Select NP_001080.2:n.2700+70C>A
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