Canonical Allele Identifier: CA276820590
Gene: ABCA3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277666G>A , CM000678.2:g.2277666G>A GRCh38
NC_000016.9:g.2327667G>A , CM000678.1:g.2327667G>A GRCh37
NC_000016.8:g.2267668G>A NCBI36
NG_011790.1:g.68081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4914C>T MANE Select ENSP00000301732.5:p.Ser1638=
ENST00000301732.9:c.4914C>T ENSP00000301732.5:p.Ser1638=
ENST00000382381.7:c.4740C>T ENSP00000371818.3:p.Ser1580=
NM_001089.2:c.4914C>T NP_001080.2:p.Ser1638=
NM_001089.3:c.4914C>T MANE Select NP_001080.2:p.Ser1638=