Canonical Allele Identifier: CA394352921
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2376240G>C (hg19) chr16:g.2326239G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326239G>C , CM000678.2:g.2326239G>C GRCh38
NC_000016.9:g.2376240G>C , CM000678.1:g.2376240G>C GRCh37
NC_000016.8:g.2316241G>C NCBI36
NG_011790.1:g.19508C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.90C>G MANE Select ENSP00000301732.5:p.Phe30Leu
ENST00000301732.9:c.90C>G ENSP00000301732.5:p.Phe30Leu
ENST00000382381.7:c.90C>G ENSP00000371818.3:p.Phe30Leu
ENST00000563623.5:n.653C>G
ENST00000567910.1:c.90C>G ENSP00000454397.1:p.Phe30Leu
NM_001089.2:c.90C>G NP_001080.2:p.Phe30Leu
NM_001089.3:c.90C>G MANE Select NP_001080.2:p.Phe30Leu
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