Canonical Allele Identifier: CA973783415
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093650265
gnomAD v3: 16-2278562-A-G
gnomAD v4: 16-2278562-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278562A>G , CM000678.2:g.2278562A>G GRCh38
NC_000016.9:g.2328563A>G , CM000678.1:g.2328563A>G GRCh37
NC_000016.8:g.2268564A>G NCBI36
NG_011790.1:g.67185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-104T>C MANE Select ENSP00000301732.5:n.4548-104T>C
ENST00000301732.9:c.4548-104T>C ENSP00000301732.5:n.4548-104T>C
ENST00000382381.7:c.4374-104T>C ENSP00000371818.3:n.4374-104T>C
ENST00000566200.1:n.1069-104T>C
NM_001089.2:c.4548-104T>C NP_001080.2:n.4548-104T>C
NM_001089.3:c.4548-104T>C MANE Select NP_001080.2:n.4548-104T>C
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