Canonical Allele Identifier: CA2202146474

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278735G= , CM000678.2:g.2278735G=	GRCh38
NC_000016.9:g.2328736G= , CM000678.1:g.2328736G=	GRCh37
NC_000016.8:g.2268737G=	NCBI36
NG_011790.1:g.67012C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4547+208C= MANE Select	ENSP00000301732.5:n.4547+208C=
ENST00000301732.9:c.4547+208C=	ENSP00000301732.5:n.4547+208C=
ENST00000382381.7:c.4373+208C=	ENSP00000371818.3:n.4373+208C=
ENST00000566200.1:n.1068+208C=
NM_001089.2:c.4547+208C=	NP_001080.2:n.4547+208C=
NM_001089.3:c.4547+208C= MANE Select	NP_001080.2:n.4547+208C=