Canonical Allele Identifier: CA394305480
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278305G>C , CM000678.2:g.2278305G>C GRCh38
NC_000016.9:g.2328306G>C , CM000678.1:g.2328306G>C GRCh37
NC_000016.8:g.2268307G>C NCBI36
NG_011790.1:g.67442C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4701C>G MANE Select ENSP00000301732.5:p.Ile1567Met
ENST00000301732.9:c.4701C>G ENSP00000301732.5:p.Ile1567Met
ENST00000382381.7:c.4527C>G ENSP00000371818.3:p.Ile1509Met
ENST00000566200.1:n.1222C>G
NM_001089.2:c.4701C>G NP_001080.2:p.Ile1567Met
NM_001089.3:c.4701C>G MANE Select NP_001080.2:p.Ile1567Met