Canonical Allele Identifier: CA2202169487

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326448G= , CM000678.2:g.2326448G=	GRCh38
NC_000016.9:g.2376449G= , CM000678.1:g.2376449G=	GRCh37
NC_000016.8:g.2316450G=	NCBI36
NG_011790.1:g.19299C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.19C= MANE Select	ENSP00000301732.5:p.Leu7=
ENST00000301732.9:c.19C=	ENSP00000301732.5:p.Leu7=
ENST00000382381.7:c.19C=	ENSP00000371818.3:p.Leu7=
ENST00000563623.5:n.582C=
ENST00000567910.1:c.19C=	ENSP00000454397.1:p.Leu7=
NM_001089.2:c.19C=	NP_001080.2:p.Leu7=
NM_001089.3:c.19C= MANE Select	NP_001080.2:p.Leu7=