Canonical Allele Identifier: CA2202146211

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278286A= , CM000678.2:g.2278286A=	GRCh38
NC_000016.9:g.2328287A= , CM000678.1:g.2328287A=	GRCh37
NC_000016.8:g.2268288A=	NCBI36
NG_011790.1:g.67461T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4718+2T= MANE Select	ENSP00000301732.5:n.4718+2T=
ENST00000301732.9:c.4718+2T=	ENSP00000301732.5:n.4718+2T=
ENST00000382381.7:c.4544+2T=	ENSP00000371818.3:n.4544+2T=
NM_001089.2:c.4718+2T=	NP_001080.2:n.4718+2T=
NM_001089.3:c.4718+2T= MANE Select	NP_001080.2:n.4718+2T=