Canonical Allele Identifier: CA2202173318

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326019T= , CM000678.2:g.2326019T=	GRCh38
NC_000016.9:g.2376020T= , CM000678.1:g.2376020T=	GRCh37
NC_000016.8:g.2316021T=	NCBI36
NG_011790.1:g.19728A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.310A= MANE Select	ENSP00000301732.5:p.Asn104=
ENST00000301732.9:c.310A=	ENSP00000301732.5:p.Asn104=
ENST00000382381.7:c.310A=	ENSP00000371818.3:p.Asn104=
ENST00000563623.5:n.873A=
ENST00000567910.1:c.310A=	ENSP00000454397.1:p.Asn104=
NM_001089.2:c.310A=	NP_001080.2:p.Asn104=
NM_001089.3:c.310A= MANE Select	NP_001080.2:p.Asn104=