Canonical Allele Identifier: CA2202166757

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317582G= , CM000678.2:g.2317582G=	GRCh38
NC_000016.9:g.2367583G= , CM000678.1:g.2367583G=	GRCh37
NC_000016.8:g.2307584G=	NCBI36
NG_011790.1:g.28165C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.990+66C= MANE Select	ENSP00000301732.5:n.990+66C=
ENST00000301732.9:c.990+66C=	ENSP00000301732.5:n.990+66C=
ENST00000382381.7:c.990+66C=	ENSP00000371818.3:n.990+66C=
ENST00000563623.5:n.1553+66C=
NM_001089.2:c.990+66C=	NP_001080.2:n.990+66C=
NM_001089.3:c.990+66C= MANE Select	NP_001080.2:n.990+66C=