Canonical Allele Identifier: CA2202158186
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299668C= , CM000678.2:g.2299668C= GRCh38
NC_000016.9:g.2349669C= , CM000678.1:g.2349669C= GRCh37
NC_000016.8:g.2289670C= NCBI36
NG_011790.1:g.46079G=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1612-136G= MANE Select ENSP00000301732.5:n.1612-136G=
ENST00000301732.9:c.1612-136G= ENSP00000301732.5:n.1612-136G=
ENST00000382381.7:c.1438-136G= ENSP00000371818.3:n.1438-136G=
ENST00000563623.5:n.2175-136G=
NM_001089.2:c.1612-136G= NP_001080.2:n.1612-136G=
NM_001089.3:c.1612-136G= MANE Select NP_001080.2:n.1612-136G=
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