Canonical Allele Identifier: CA2202146483

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278768G= , CM000678.2:g.2278768G=	GRCh38
NC_000016.9:g.2328769G= , CM000678.1:g.2328769G=	GRCh37
NC_000016.8:g.2268770G=	NCBI36
NG_011790.1:g.66979C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4547+175C= MANE Select	ENSP00000301732.5:n.4547+175C=
ENST00000301732.9:c.4547+175C=	ENSP00000301732.5:n.4547+175C=
ENST00000382381.7:c.4373+175C=	ENSP00000371818.3:n.4373+175C=
ENST00000566200.1:n.1068+175C=
NM_001089.2:c.4547+175C=	NP_001080.2:n.4547+175C=
NM_001089.3:c.4547+175C= MANE Select	NP_001080.2:n.4547+175C=