Canonical Allele Identifier: CA973783458
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093650619
gnomAD v3: 16-2278720-C-T
gnomAD v4: 16-2278720-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278720C>T , CM000678.2:g.2278720C>T GRCh38
NC_000016.9:g.2328721C>T , CM000678.1:g.2328721C>T GRCh37
NC_000016.8:g.2268722C>T NCBI36
NG_011790.1:g.67027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4547+223G>A MANE Select ENSP00000301732.5:n.4547+223G>A
ENST00000301732.9:c.4547+223G>A ENSP00000301732.5:n.4547+223G>A
ENST00000382381.7:c.4373+223G>A ENSP00000371818.3:n.4373+223G>A
ENST00000566200.1:n.1068+223G>A
NM_001089.2:c.4547+223G>A NP_001080.2:n.4547+223G>A
NM_001089.3:c.4547+223G>A MANE Select NP_001080.2:n.4547+223G>A
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