Canonical Allele Identifier: CA394304448
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277930G>T , CM000678.2:g.2277930G>T GRCh38
NC_000016.9:g.2327931G>T , CM000678.1:g.2327931G>T GRCh37
NC_000016.8:g.2267932G>T NCBI36
NG_011790.1:g.67817C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4858C>A MANE Select ENSP00000301732.5:p.Gln1620Lys
ENST00000301732.9:c.4858C>A ENSP00000301732.5:p.Gln1620Lys
ENST00000382381.7:c.4684C>A ENSP00000371818.3:p.Gln1562Lys
NM_001089.2:c.4858C>A NP_001080.2:p.Gln1620Lys
NM_001089.3:c.4858C>A MANE Select NP_001080.2:p.Gln1620Lys