Canonical Allele Identifier: CA2202146480
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278747C= , CM000678.2:g.2278747C= GRCh38
NC_000016.9:g.2328748C= , CM000678.1:g.2328748C= GRCh37
NC_000016.8:g.2268749C= NCBI36
NG_011790.1:g.67000G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4547+196G= MANE Select ENSP00000301732.5:n.4547+196G=
ENST00000301732.9:c.4547+196G= ENSP00000301732.5:n.4547+196G=
ENST00000382381.7:c.4373+196G= ENSP00000371818.3:n.4373+196G=
ENST00000566200.1:n.1068+196G=
NM_001089.2:c.4547+196G= NP_001080.2:n.4547+196G=
NM_001089.3:c.4547+196G= MANE Select NP_001080.2:n.4547+196G=
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