Canonical Allele Identifier: CA2202146326
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs376543792
gnomAD v4: 16-2278495-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278495T>C , CM000678.2:g.2278495T>C GRCh38
NC_000016.9:g.2328496T>C , CM000678.1:g.2328496T>C GRCh37
NC_000016.8:g.2268497T>C NCBI36
NG_011790.1:g.67252A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-37A>G MANE Select ENSP00000301732.5:n.4548-37A>G
ENST00000301732.9:c.4548-37A>G ENSP00000301732.5:n.4548-37A>G
ENST00000382381.7:c.4374-37A>G ENSP00000371818.3:n.4374-37A>G
ENST00000566200.1:n.1069-37A>G
NM_001089.2:c.4548-37A>G NP_001080.2:n.4548-37A>G
NM_001089.3:c.4548-37A>G MANE Select NP_001080.2:n.4548-37A>G
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