Canonical Allele Identifier: CA2202149678

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285399T= , CM000678.2:g.2285399T=	GRCh38
NC_000016.9:g.2335400T= , CM000678.1:g.2335400T=	GRCh37
NC_000016.8:g.2275401T=	NCBI36
NG_011790.1:g.60348A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3483+43A= MANE Select	ENSP00000301732.5:n.3483+43A=
ENST00000301732.9:c.3483+43A=	ENSP00000301732.5:n.3483+43A=
ENST00000382381.7:c.3309+43A=	ENSP00000371818.3:n.3309+43A=
NM_001089.2:c.3483+43A=	NP_001080.2:n.3483+43A=
NM_001089.3:c.3483+43A= MANE Select	NP_001080.2:n.3483+43A=