Canonical Allele Identifier: CA493167326
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2367718G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317717G>T , CM000678.2:g.2317717G>T GRCh38
NC_000016.9:g.2367718G>T , CM000678.1:g.2367718G>T GRCh37
NC_000016.8:g.2307719G>T NCBI36
NG_011790.1:g.28030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.921C>A MANE Select ENSP00000301732.5:p.Ala307=
ENST00000301732.9:c.921C>A ENSP00000301732.5:p.Ala307=
ENST00000382381.7:c.921C>A ENSP00000371818.3:p.Ala307=
ENST00000563623.5:n.1484C>A
NM_001089.2:c.921C>A NP_001080.2:p.Ala307=
NM_001089.3:c.921C>A MANE Select NP_001080.2:p.Ala307=