Canonical Allele Identifier: CA2510295627
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278625G>T , CM000678.2:g.2278625G>T GRCh38
NC_000016.9:g.2328626G>T , CM000678.1:g.2328626G>T GRCh37
NC_000016.8:g.2268627G>T NCBI36
NG_011790.1:g.67122C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-167C>A MANE Select ENSP00000301732.5:n.4548-167C>A
ENST00000301732.9:c.4548-167C>A ENSP00000301732.5:n.4548-167C>A
ENST00000382381.7:c.4374-167C>A ENSP00000371818.3:n.4374-167C>A
ENST00000566200.1:n.1069-167C>A
NM_001089.2:c.4548-167C>A NP_001080.2:n.4548-167C>A
NM_001089.3:c.4548-167C>A MANE Select NP_001080.2:n.4548-167C>A
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