Canonical Allele Identifier: CA394305876
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278371-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278371C>T , CM000678.2:g.2278371C>T GRCh38
NC_000016.9:g.2328372C>T , CM000678.1:g.2328372C>T GRCh37
NC_000016.8:g.2268373C>T NCBI36
NG_011790.1:g.67376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4635G>A MANE Select ENSP00000301732.5:p.Met1545Ile
ENST00000301732.9:c.4635G>A ENSP00000301732.5:p.Met1545Ile
ENST00000382381.7:c.4461G>A ENSP00000371818.3:p.Met1487Ile
ENST00000566200.1:n.1156G>A
NM_001089.2:c.4635G>A NP_001080.2:p.Met1545Ile
NM_001089.3:c.4635G>A MANE Select NP_001080.2:p.Met1545Ile