Canonical Allele Identifier: CA2631191245
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2326364-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326364G>C , CM000678.2:g.2326364G>C GRCh38
NC_000016.9:g.2376365G>C , CM000678.1:g.2376365G>C GRCh37
NC_000016.8:g.2316366G>C NCBI36
NG_011790.1:g.19383C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+49C>G MANE Select ENSP00000301732.5:n.54+49C>G
ENST00000301732.9:c.54+49C>G ENSP00000301732.5:n.54+49C>G
ENST00000382381.7:c.54+49C>G ENSP00000371818.3:n.54+49C>G
ENST00000563623.5:n.617+49C>G
ENST00000567910.1:c.54+49C>G ENSP00000454397.1:n.54+49C>G
NM_001089.2:c.54+49C>G NP_001080.2:n.54+49C>G
NM_001089.3:c.54+49C>G MANE Select NP_001080.2:n.54+49C>G
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