Canonical Allele Identifier: CA7841779
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 228321
ClinVar RCV Id: RCV000221771
dbSNP Id: rs754714105

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326201C>T , CM000678.2:g.2326201C>T GRCh38
NC_000016.9:g.2376202C>T , CM000678.1:g.2376202C>T GRCh37
NC_000016.8:g.2316203C>T NCBI36
NG_011790.1:g.19546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.9:c.128G>A ENSP00000301732.5:p.Arg43His
ENST00000382381.7:c.128G>A ENSP00000371818.3:p.Arg43His
ENST00000567910.1:c.128G>A ENSP00000454397.1:p.Arg43His
NM_001089.2:c.128G>A NP_001080.2:p.Arg43His
NM_001089.3:c.128G>A MANE Select NP_001080.2:p.Arg43His