Canonical Allele Identifier: CA2202145387
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs2093646849
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276641G>C , CM000678.2:g.2276641G>C GRCh38
NC_000016.9:g.2326642G>C , CM000678.1:g.2326642G>C GRCh37
NC_000016.8:g.2266643G>C NCBI36
NG_011790.1:g.69106C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*33C>G MANE Select ENSP00000301732.5:n.*33C>G
ENST00000301732.9:c.*33C>G ENSP00000301732.5:n.*33C>G
ENST00000382381.7:c.*33C>G ENSP00000371818.3:n.*33C>G
NM_001089.2:c.*33C>G NP_001080.2:n.*33C>G
NM_001089.3:c.*33C>G MANE Select NP_001080.2:n.*33C>G
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