Canonical Allele Identifier: CA2631188429
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278568-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278568G>C , CM000678.2:g.2278568G>C GRCh38
NC_000016.9:g.2328569G>C , CM000678.1:g.2328569G>C GRCh37
NC_000016.8:g.2268570G>C NCBI36
NG_011790.1:g.67179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-110C>G MANE Select ENSP00000301732.5:n.4548-110C>G
ENST00000301732.9:c.4548-110C>G ENSP00000301732.5:n.4548-110C>G
ENST00000382381.7:c.4374-110C>G ENSP00000371818.3:n.4374-110C>G
ENST00000566200.1:n.1069-110C>G
NM_001089.2:c.4548-110C>G NP_001080.2:n.4548-110C>G
NM_001089.3:c.4548-110C>G MANE Select NP_001080.2:n.4548-110C>G
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