Canonical Allele Identifier: CA2202146295

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278454C= , CM000678.2:g.2278454C=	GRCh38
NC_000016.9:g.2328455C= , CM000678.1:g.2328455C=	GRCh37
NC_000016.8:g.2268456C=	NCBI36
NG_011790.1:g.67293G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4552G= MANE Select	ENSP00000301732.5:p.Gly1518=
ENST00000301732.9:c.4552G=	ENSP00000301732.5:p.Gly1518=
ENST00000382381.7:c.4378G=	ENSP00000371818.3:p.Gly1460=
ENST00000566200.1:n.1073G=
NM_001089.2:c.4552G=	NP_001080.2:p.Gly1518=
NM_001089.3:c.4552G= MANE Select	NP_001080.2:p.Gly1518=