Canonical Allele Identifier: CA973796384
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093712976
gnomAD v3: 16-2315120-T-G
gnomAD v4: 16-2315120-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315120T>G , CM000678.2:g.2315120T>G GRCh38
NC_000016.9:g.2365121T>G , CM000678.1:g.2365121T>G GRCh37
NC_000016.8:g.2305122T>G NCBI36
NG_011790.1:g.30627A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1111+2163A>C MANE Select ENSP00000301732.5:n.1111+2163A>C
ENST00000301732.9:c.1111+2163A>C ENSP00000301732.5:n.1111+2163A>C
ENST00000382381.7:c.1111+2163A>C ENSP00000371818.3:n.1111+2163A>C
ENST00000563623.5:n.1674+2163A>C
NM_001089.2:c.1111+2163A>C NP_001080.2:n.1111+2163A>C
NM_001089.3:c.1111+2163A>C MANE Select NP_001080.2:n.1111+2163A>C
Search 100 bp 5'
Search 100 bp 3'