Canonical Allele Identifier: CA2202169137

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326170G= , CM000678.2:g.2326170G=	GRCh38
NC_000016.9:g.2376171G= , CM000678.1:g.2376171G=	GRCh37
NC_000016.8:g.2316172G=	NCBI36
NG_011790.1:g.19577C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.159C= MANE Select	ENSP00000301732.5:p.Asn53=
ENST00000301732.9:c.159C=	ENSP00000301732.5:p.Asn53=
ENST00000382381.7:c.159C=	ENSP00000371818.3:p.Asn53=
ENST00000563623.5:n.722C=
ENST00000567910.1:c.159C=	ENSP00000454397.1:p.Asn53=
NM_001089.2:c.159C=	NP_001080.2:p.Asn53=
NM_001089.3:c.159C= MANE Select	NP_001080.2:p.Asn53=