Canonical Allele Identifier: CA2202176740
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2337207G= , CM000678.2:g.2337207G= GRCh38
NC_000016.9:g.2387208G= , CM000678.1:g.2387208G= GRCh37
NC_000016.8:g.2327209G= NCBI36
NG_011790.1:g.8540C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-539+3366C= MANE Select ENSP00000301732.5:n.-539+3366C=
ENST00000301732.9:c.-539+3366C= ENSP00000301732.5:n.-539+3366C=
ENST00000382381.7:c.-539+3366C= ENSP00000371818.3:n.-539+3366C=
ENST00000563623.5:n.25+3366C=
NM_001089.2:c.-539+3366C= NP_001080.2:n.-539+3366C=
NM_001089.3:c.-539+3366C= MANE Select NP_001080.2:n.-539+3366C=
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