Canonical Allele Identifier: CA394305641
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278330C>A , CM000678.2:g.2278330C>A GRCh38
NC_000016.9:g.2328331C>A , CM000678.1:g.2328331C>A GRCh37
NC_000016.8:g.2268332C>A NCBI36
NG_011790.1:g.67417G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4676G>T MANE Select ENSP00000301732.5:p.Arg1559Leu
ENST00000301732.9:c.4676G>T ENSP00000301732.5:p.Arg1559Leu
ENST00000382381.7:c.4502G>T ENSP00000371818.3:p.Arg1501Leu
ENST00000566200.1:n.1197G>T
NM_001089.2:c.4676G>T NP_001080.2:p.Arg1559Leu
NM_001089.3:c.4676G>T MANE Select NP_001080.2:p.Arg1559Leu