Canonical Allele Identifier: CA2202176753

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337234G= , CM000678.2:g.2337234G=	GRCh38
NC_000016.9:g.2387235G= , CM000678.1:g.2387235G=	GRCh37
NC_000016.8:g.2327236G=	NCBI36
NG_011790.1:g.8513C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+3339C= MANE Select	ENSP00000301732.5:n.-539+3339C=
ENST00000301732.9:c.-539+3339C=	ENSP00000301732.5:n.-539+3339C=
ENST00000382381.7:c.-539+3339C=	ENSP00000371818.3:n.-539+3339C=
ENST00000563623.5:n.25+3339C=
NM_001089.2:c.-539+3339C=	NP_001080.2:n.-539+3339C=
NM_001089.3:c.-539+3339C= MANE Select	NP_001080.2:n.-539+3339C=