Canonical Allele Identifier: CA394352983
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326249A>C , CM000678.2:g.2326249A>C GRCh38
NC_000016.9:g.2376250A>C , CM000678.1:g.2376250A>C GRCh37
NC_000016.8:g.2316251A>C NCBI36
NG_011790.1:g.19498T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.80T>G MANE Select ENSP00000301732.5:p.Leu27Arg
ENST00000301732.9:c.80T>G ENSP00000301732.5:p.Leu27Arg
ENST00000382381.7:c.80T>G ENSP00000371818.3:p.Leu27Arg
ENST00000563623.5:n.643T>G
ENST00000567910.1:c.80T>G ENSP00000454397.1:p.Leu27Arg
NM_001089.2:c.80T>G NP_001080.2:p.Leu27Arg
NM_001089.3:c.80T>G MANE Select NP_001080.2:p.Leu27Arg