Canonical Allele Identifier: CA2202146232

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278324C= , CM000678.2:g.2278324C=	GRCh38
NC_000016.9:g.2328325C= , CM000678.1:g.2328325C=	GRCh37
NC_000016.8:g.2268326C=	NCBI36
NG_011790.1:g.67423G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4682G= MANE Select	ENSP00000301732.5:p.Arg1561=
ENST00000301732.9:c.4682G=	ENSP00000301732.5:p.Arg1561=
ENST00000382381.7:c.4508G=	ENSP00000371818.3:p.Arg1503=
ENST00000566200.1:n.1203G=
NM_001089.2:c.4682G=	NP_001080.2:p.Arg1561=
NM_001089.3:c.4682G= MANE Select	NP_001080.2:p.Arg1561=