Canonical Allele Identifier: CA2202145993
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1596826536
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277847A>C , CM000678.2:g.2277847A>C GRCh38
NC_000016.9:g.2327848A>C , CM000678.1:g.2327848A>C GRCh37
NC_000016.8:g.2267849A>C NCBI36
NG_011790.1:g.67900T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4909+32T>G MANE Select ENSP00000301732.5:n.4909+32T>G
ENST00000301732.9:c.4909+32T>G ENSP00000301732.5:n.4909+32T>G
ENST00000382381.7:c.4735+32T>G ENSP00000371818.3:n.4735+32T>G
NM_001089.2:c.4909+32T>G NP_001080.2:n.4909+32T>G
NM_001089.3:c.4909+32T>G MANE Select NP_001080.2:n.4909+32T>G
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