Canonical Allele Identifier: CA2202146455

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278709A= , CM000678.2:g.2278709A=	GRCh38
NC_000016.9:g.2328710A= , CM000678.1:g.2328710A=	GRCh37
NC_000016.8:g.2268711A=	NCBI36
NG_011790.1:g.67038T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4547+234T= MANE Select	ENSP00000301732.5:n.4547+234T=
ENST00000301732.9:c.4547+234T=	ENSP00000301732.5:n.4547+234T=
ENST00000382381.7:c.4373+234T=	ENSP00000371818.3:n.4373+234T=
ENST00000566200.1:n.1068+234T=
NM_001089.2:c.4547+234T=	NP_001080.2:n.4547+234T=
NM_001089.3:c.4547+234T= MANE Select	NP_001080.2:n.4547+234T=