Canonical Allele Identifier: CA2202165322

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315144A= , CM000678.2:g.2315144A=	GRCh38
NC_000016.9:g.2365145A= , CM000678.1:g.2365145A=	GRCh37
NC_000016.8:g.2305146A=	NCBI36
NG_011790.1:g.30603T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.1111+2139T= MANE Select	ENSP00000301732.5:n.1111+2139T=
ENST00000301732.9:c.1111+2139T=	ENSP00000301732.5:n.1111+2139T=
ENST00000382381.7:c.1111+2139T=	ENSP00000371818.3:n.1111+2139T=
ENST00000563623.5:n.1674+2139T=
NM_001089.2:c.1111+2139T=	NP_001080.2:n.1111+2139T=
NM_001089.3:c.1111+2139T= MANE Select	NP_001080.2:n.1111+2139T=