Canonical Allele Identifier: CA394353027
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326255G>C , CM000678.2:g.2326255G>C GRCh38
NC_000016.9:g.2376256G>C , CM000678.1:g.2376256G>C GRCh37
NC_000016.8:g.2316257G>C NCBI36
NG_011790.1:g.19492C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.74C>G MANE Select ENSP00000301732.5:p.Thr25Arg
ENST00000301732.9:c.74C>G ENSP00000301732.5:p.Thr25Arg
ENST00000382381.7:c.74C>G ENSP00000371818.3:p.Thr25Arg
ENST00000563623.5:n.637C>G
ENST00000567910.1:c.74C>G ENSP00000454397.1:p.Thr25Arg
NM_001089.2:c.74C>G NP_001080.2:p.Thr25Arg
NM_001089.3:c.74C>G MANE Select NP_001080.2:p.Thr25Arg