Canonical Allele Identifier: CA2805586348
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276613T>G , CM000678.2:g.2276613T>G GRCh38
NC_000016.9:g.2326614T>G , CM000678.1:g.2326614T>G GRCh37
NC_000016.8:g.2266615T>G NCBI36
NG_011790.1:g.69134A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*61A>C MANE Select ENSP00000301732.5:n.*61A>C
ENST00000301732.9:c.*61A>C ENSP00000301732.5:n.*61A>C
ENST00000382381.7:c.*61A>C ENSP00000371818.3:n.*61A>C
NM_001089.2:c.*61A>C NP_001080.2:n.*61A>C
NM_001089.3:c.*61A>C MANE Select NP_001080.2:n.*61A>C
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Search 100 bp 3'