Canonical Allele Identifier: CA2202176721
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093753176
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2337172C>T , CM000678.2:g.2337172C>T GRCh38
NC_000016.9:g.2387173C>T , CM000678.1:g.2387173C>T GRCh37
NC_000016.8:g.2327174C>T NCBI36
NG_011790.1:g.8575G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.-539+3401G>A MANE Select ENSP00000301732.5:n.-539+3401G>A
ENST00000301732.9:c.-539+3401G>A ENSP00000301732.5:n.-539+3401G>A
ENST00000382381.7:c.-539+3401G>A ENSP00000371818.3:n.-539+3401G>A
ENST00000563623.5:n.25+3401G>A
NM_001089.2:c.-539+3401G>A NP_001080.2:n.-539+3401G>A
NM_001089.3:c.-539+3401G>A MANE Select NP_001080.2:n.-539+3401G>A
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