Canonical Allele Identifier: CA394351682
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326016T>A , CM000678.2:g.2326016T>A GRCh38
NC_000016.9:g.2376017T>A , CM000678.1:g.2376017T>A GRCh37
NC_000016.8:g.2316018T>A NCBI36
NG_011790.1:g.19731A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.313A>T MANE Select ENSP00000301732.5:p.Met105Leu
ENST00000301732.9:c.313A>T ENSP00000301732.5:p.Met105Leu
ENST00000382381.7:c.313A>T ENSP00000371818.3:p.Met105Leu
ENST00000563623.5:n.876A>T
ENST00000567910.1:c.313A>T ENSP00000454397.1:p.Met105Leu
NM_001089.2:c.313A>T NP_001080.2:p.Met105Leu
NM_001089.3:c.313A>T MANE Select NP_001080.2:p.Met105Leu