Canonical Allele Identifier: CA394305744
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278346A>T , CM000678.2:g.2278346A>T GRCh38
NC_000016.9:g.2328347A>T , CM000678.1:g.2328347A>T GRCh37
NC_000016.8:g.2268348A>T NCBI36
NG_011790.1:g.67401T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4660T>A MANE Select ENSP00000301732.5:p.Trp1554Arg
ENST00000301732.9:c.4660T>A ENSP00000301732.5:p.Trp1554Arg
ENST00000382381.7:c.4486T>A ENSP00000371818.3:p.Trp1496Arg
ENST00000566200.1:n.1181T>A
NM_001089.2:c.4660T>A NP_001080.2:p.Trp1554Arg
NM_001089.3:c.4660T>A MANE Select NP_001080.2:p.Trp1554Arg