Canonical Allele Identifier: CA2202146478

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278740C= , CM000678.2:g.2278740C=	GRCh38
NC_000016.9:g.2328741C= , CM000678.1:g.2328741C=	GRCh37
NC_000016.8:g.2268742C=	NCBI36
NG_011790.1:g.67007G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4547+203G= MANE Select	ENSP00000301732.5:n.4547+203G=
ENST00000301732.9:c.4547+203G=	ENSP00000301732.5:n.4547+203G=
ENST00000382381.7:c.4373+203G=	ENSP00000371818.3:n.4373+203G=
ENST00000566200.1:n.1068+203G=
NM_001089.2:c.4547+203G=	NP_001080.2:n.4547+203G=
NM_001089.3:c.4547+203G= MANE Select	NP_001080.2:n.4547+203G=