Canonical Allele Identifier: CA2202158195
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299679G= , CM000678.2:g.2299679G= GRCh38
NC_000016.9:g.2349680G= , CM000678.1:g.2349680G= GRCh37
NC_000016.8:g.2289681G= NCBI36
NG_011790.1:g.46068C=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1612-147C= MANE Select ENSP00000301732.5:n.1612-147C=
ENST00000301732.9:c.1612-147C= ENSP00000301732.5:n.1612-147C=
ENST00000382381.7:c.1438-147C= ENSP00000371818.3:n.1438-147C=
ENST00000563623.5:n.2175-147C=
NM_001089.2:c.1612-147C= NP_001080.2:n.1612-147C=
NM_001089.3:c.1612-147C= MANE Select NP_001080.2:n.1612-147C=
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