Canonical Allele Identifier: CA2575883034
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326329T>G , CM000678.2:g.2326329T>G GRCh38
NC_000016.9:g.2376330T>G , CM000678.1:g.2376330T>G GRCh37
NC_000016.8:g.2316331T>G NCBI36
NG_011790.1:g.19418A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.55-55A>C MANE Select ENSP00000301732.5:n.55-55A>C
ENST00000301732.9:c.55-55A>C ENSP00000301732.5:n.55-55A>C
ENST00000382381.7:c.55-55A>C ENSP00000371818.3:n.55-55A>C
ENST00000563623.5:n.618-55A>C
ENST00000567910.1:c.55-55A>C ENSP00000454397.1:n.55-55A>C
NM_001089.2:c.55-55A>C NP_001080.2:n.55-55A>C
NM_001089.3:c.55-55A>C MANE Select NP_001080.2:n.55-55A>C
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