Canonical Allele Identifier: CA2202146486

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278773G= , CM000678.2:g.2278773G=	GRCh38
NC_000016.9:g.2328774G= , CM000678.1:g.2328774G=	GRCh37
NC_000016.8:g.2268775G=	NCBI36
NG_011790.1:g.66974C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4547+170C= MANE Select	ENSP00000301732.5:n.4547+170C=
ENST00000301732.9:c.4547+170C=	ENSP00000301732.5:n.4547+170C=
ENST00000382381.7:c.4373+170C=	ENSP00000371818.3:n.4373+170C=
ENST00000566200.1:n.1068+170C=
NM_001089.2:c.4547+170C=	NP_001080.2:n.4547+170C=
NM_001089.3:c.4547+170C= MANE Select	NP_001080.2:n.4547+170C=