Canonical Allele Identifier: CA2202149755

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285544G= , CM000678.2:g.2285544G=	GRCh38
NC_000016.9:g.2335545G= , CM000678.1:g.2335545G=	GRCh37
NC_000016.8:g.2275546G=	NCBI36
NG_011790.1:g.60203C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3381C= MANE Select	ENSP00000301732.5:p.Ala1127=
ENST00000301732.9:c.3381C=	ENSP00000301732.5:p.Ala1127=
ENST00000382381.7:c.3207C=	ENSP00000371818.3:p.Ala1069=
NM_001089.2:c.3381C=	NP_001080.2:p.Ala1127=
NM_001089.3:c.3381C= MANE Select	NP_001080.2:p.Ala1127=