Canonical Allele Identifier: CA7841742
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs371116381
gnomAD v2: 16-2376013-C-T
gnomAD v3: 16-2326012-C-T
gnomAD v4: 16-2326012-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326012C>T , CM000678.2:g.2326012C>T GRCh38
NC_000016.9:g.2376013C>T , CM000678.1:g.2376013C>T GRCh37
NC_000016.8:g.2316014C>T NCBI36
NG_011790.1:g.19735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.317G>A MANE Select ENSP00000301732.5:p.Arg106Gln
ENST00000301732.9:c.317G>A ENSP00000301732.5:p.Arg106Gln
ENST00000382381.7:c.317G>A ENSP00000371818.3:p.Arg106Gln
ENST00000563623.5:n.880G>A
ENST00000567910.1:c.317G>A ENSP00000454397.1:p.Arg106Gln
NM_001089.2:c.317G>A NP_001080.2:p.Arg106Gln
NM_001089.3:c.317G>A MANE Select NP_001080.2:p.Arg106Gln