Canonical Allele Identifier: CA973796409
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093713039
gnomAD v3: 16-2315157-A-C
gnomAD v4: 16-2315157-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315157A>C , CM000678.2:g.2315157A>C GRCh38
NC_000016.9:g.2365158A>C , CM000678.1:g.2365158A>C GRCh37
NC_000016.8:g.2305159A>C NCBI36
NG_011790.1:g.30590T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+2126T>G MANE Select ENSP00000301732.5:n.1111+2126T>G
ENST00000301732.9:c.1111+2126T>G ENSP00000301732.5:n.1111+2126T>G
ENST00000382381.7:c.1111+2126T>G ENSP00000371818.3:n.1111+2126T>G
ENST00000563623.5:n.1674+2126T>G
NM_001089.2:c.1111+2126T>G NP_001080.2:n.1111+2126T>G
NM_001089.3:c.1111+2126T>G MANE Select NP_001080.2:n.1111+2126T>G
Search 100 bp 5'
Search 100 bp 3'