Canonical Allele Identifier: CA2575882176

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2276608G>C , CM000678.2:g.2276608G>C	GRCh38
NC_000016.9:g.2326609G>C , CM000678.1:g.2326609G>C	GRCh37
NC_000016.8:g.2266610G>C	NCBI36
NG_011790.1:g.69139C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.*66C>G MANE Select	ENSP00000301732.5:n.*66C>G
ENST00000301732.9:c.*66C>G	ENSP00000301732.5:n.*66C>G
ENST00000382381.7:c.*66C>G	ENSP00000371818.3:n.*66C>G
NM_001089.2:c.*66C>G	NP_001080.2:n.*66C>G
NM_001089.3:c.*66C>G MANE Select	NP_001080.2:n.*66C>G