Canonical Allele Identifier: CA2575882184

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2276646T>A , CM000678.2:g.2276646T>A	GRCh38
NC_000016.9:g.2326647T>A , CM000678.1:g.2326647T>A	GRCh37
NC_000016.8:g.2266648T>A	NCBI36
NG_011790.1:g.69101A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.*28A>T MANE Select	ENSP00000301732.5:n.*28A>T
ENST00000301732.9:c.*28A>T	ENSP00000301732.5:n.*28A>T
ENST00000382381.7:c.*28A>T	ENSP00000371818.3:n.*28A>T
NM_001089.2:c.*28A>T	NP_001080.2:n.*28A>T
NM_001089.3:c.*28A>T MANE Select	NP_001080.2:n.*28A>T