Canonical Allele Identifier: CA10637381
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 318598
ClinVar RCV Id: RCV000403134
dbSNP Id: rs45456893

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340595G>T , CM000678.2:g.2340595G>T GRCh38
NC_000016.9:g.2390596G>T , CM000678.1:g.2390596G>T GRCh37
NC_000016.8:g.2330597G>T NCBI36
NG_011790.1:g.5152C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.-561C>A MANE Select ENSP00000301732.5:p.=
ENST00000640929.1:n.42+1264G>T
ENST00000301732.9:c.-561C>A ENSP00000301732.5:p.=
ENST00000382381.7:c.-561C>A ENSP00000371818.3:p.=
ENST00000512848.5:n.182+1264G>T
ENST00000563623.5:n.3C>A
NM_001089.2:c.-561C>A NP_001080.2:p.=
NM_001089.3:c.-561C>A MANE Select NP_001080.2:p.=