Canonical Allele Identifier: CA7839895
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 227154
dbSNP Id: rs139954112
gnomAD v2: 16-2326689-C-T
gnomAD v3: 16-2276688-C-T
gnomAD v4: 16-2276688-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276688C>T , CM000678.2:g.2276688C>T GRCh38
NC_000016.9:g.2326689C>T , CM000678.1:g.2326689C>T GRCh37
NC_000016.8:g.2266690C>T NCBI36
NG_011790.1:g.69059G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.5101G>A MANE Select ENSP00000301732.5:p.Glu1701Lys
ENST00000301732.9:c.5101G>A ENSP00000301732.5:p.Glu1701Lys
ENST00000382381.7:c.4927G>A ENSP00000371818.3:p.Glu1643Lys
NM_001089.2:c.5101G>A NP_001080.2:p.Glu1701Lys
NM_001089.3:c.5101G>A MANE Select NP_001080.2:p.Glu1701Lys