Canonical Allele Identifier: CA2202165434
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315301T= , CM000678.2:g.2315301T= GRCh38
NC_000016.9:g.2365302T= , CM000678.1:g.2365302T= GRCh37
NC_000016.8:g.2305303T= NCBI36
NG_011790.1:g.30446A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1982A= MANE Select ENSP00000301732.5:n.1111+1982A=
ENST00000301732.9:c.1111+1982A= ENSP00000301732.5:n.1111+1982A=
ENST00000382381.7:c.1111+1982A= ENSP00000371818.3:n.1111+1982A=
ENST00000563623.5:n.1674+1982A=
NM_001089.2:c.1111+1982A= NP_001080.2:n.1111+1982A=
NM_001089.3:c.1111+1982A= MANE Select NP_001080.2:n.1111+1982A=
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