Canonical Allele Identifier: CA2202146234

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278330C= , CM000678.2:g.2278330C=	GRCh38
NC_000016.9:g.2328331C= , CM000678.1:g.2328331C=	GRCh37
NC_000016.8:g.2268332C=	NCBI36
NG_011790.1:g.67417G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4676G= MANE Select	ENSP00000301732.5:p.Arg1559=
ENST00000301732.9:c.4676G=	ENSP00000301732.5:p.Arg1559=
ENST00000382381.7:c.4502G=	ENSP00000371818.3:p.Arg1501=
ENST00000566200.1:n.1197G=
NM_001089.2:c.4676G=	NP_001080.2:p.Arg1559=
NM_001089.3:c.4676G= MANE Select	NP_001080.2:p.Arg1559=