Canonical Allele Identifier: CA2575882185
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2276647-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276647G>T , CM000678.2:g.2276647G>T GRCh38
NC_000016.9:g.2326648G>T , CM000678.1:g.2326648G>T GRCh37
NC_000016.8:g.2266649G>T NCBI36
NG_011790.1:g.69100C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.*27C>A MANE Select ENSP00000301732.5:n.*27C>A
ENST00000301732.9:c.*27C>A ENSP00000301732.5:n.*27C>A
ENST00000382381.7:c.*27C>A ENSP00000371818.3:n.*27C>A
NM_001089.2:c.*27C>A NP_001080.2:n.*27C>A
NM_001089.3:c.*27C>A MANE Select NP_001080.2:n.*27C>A
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