Canonical Allele Identifier: CA2202146258

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278372A= , CM000678.2:g.2278372A=	GRCh38
NC_000016.9:g.2328373A= , CM000678.1:g.2328373A=	GRCh37
NC_000016.8:g.2268374A=	NCBI36
NG_011790.1:g.67375T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4634T= MANE Select	ENSP00000301732.5:p.Met1545=
ENST00000301732.9:c.4634T=	ENSP00000301732.5:p.Met1545=
ENST00000382381.7:c.4460T=	ENSP00000371818.3:p.Met1487=
ENST00000566200.1:n.1155T=
NM_001089.2:c.4634T=	NP_001080.2:p.Met1545=
NM_001089.3:c.4634T= MANE Select	NP_001080.2:p.Met1545=