Canonical Allele Identifier: CA394305447
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278300A>G , CM000678.2:g.2278300A>G GRCh38
NC_000016.9:g.2328301A>G , CM000678.1:g.2328301A>G GRCh37
NC_000016.8:g.2268302A>G NCBI36
NG_011790.1:g.67447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4706T>C MANE Select ENSP00000301732.5:p.Ile1569Thr
ENST00000301732.9:c.4706T>C ENSP00000301732.5:p.Ile1569Thr
ENST00000382381.7:c.4532T>C ENSP00000371818.3:p.Ile1511Thr
ENST00000566200.1:n.1227T>C
NM_001089.2:c.4706T>C NP_001080.2:p.Ile1569Thr
NM_001089.3:c.4706T>C MANE Select NP_001080.2:p.Ile1569Thr