Canonical Allele Identifier: CA973796652
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093713750
gnomAD v3: 16-2315459-T-C
gnomAD v4: 16-2315459-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315459T>C , CM000678.2:g.2315459T>C GRCh38
NC_000016.9:g.2365460T>C , CM000678.1:g.2365460T>C GRCh37
NC_000016.8:g.2305461T>C NCBI36
NG_011790.1:g.30288A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1824A>G MANE Select ENSP00000301732.5:n.1111+1824A>G
ENST00000301732.9:c.1111+1824A>G ENSP00000301732.5:n.1111+1824A>G
ENST00000382381.7:c.1111+1824A>G ENSP00000371818.3:n.1111+1824A>G
ENST00000563623.5:n.1674+1824A>G
NM_001089.2:c.1111+1824A>G NP_001080.2:n.1111+1824A>G
NM_001089.3:c.1111+1824A>G MANE Select NP_001080.2:n.1111+1824A>G
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