Canonical Allele Identifier: CA2202145379
Gene: ABCA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276625C= , CM000678.2:g.2276625C= GRCh38
NC_000016.9:g.2326626C= , CM000678.1:g.2326626C= GRCh37
NC_000016.8:g.2266627C= NCBI36
NG_011790.1:g.69122G=

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*49G= MANE Select ENSP00000301732.5:n.*49G=
ENST00000301732.9:c.*49G= ENSP00000301732.5:n.*49G=
ENST00000382381.7:c.*49G= ENSP00000371818.3:n.*49G=
NM_001089.2:c.*49G= NP_001080.2:n.*49G=
NM_001089.3:c.*49G= MANE Select NP_001080.2:n.*49G=