Canonical Allele Identifier: CA493094293
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328423G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278422G>A , CM000678.2:g.2278422G>A GRCh38
NC_000016.9:g.2328423G>A , CM000678.1:g.2328423G>A GRCh37
NC_000016.8:g.2268424G>A NCBI36
NG_011790.1:g.67325C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4584C>T MANE Select ENSP00000301732.5:p.Ala1528=
ENST00000301732.9:c.4584C>T ENSP00000301732.5:p.Ala1528=
ENST00000382381.7:c.4410C>T ENSP00000371818.3:p.Ala1470=
ENST00000566200.1:n.1105C>T
NM_001089.2:c.4584C>T NP_001080.2:p.Ala1528=
NM_001089.3:c.4584C>T MANE Select NP_001080.2:p.Ala1528=