Canonical Allele Identifier: CA2202145375

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2276620T= , CM000678.2:g.2276620T=	GRCh38
NC_000016.9:g.2326621T= , CM000678.1:g.2326621T=	GRCh37
NC_000016.8:g.2266622T=	NCBI36
NG_011790.1:g.69127A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.*54A= MANE Select	ENSP00000301732.5:n.*54A=
ENST00000301732.9:c.*54A=	ENSP00000301732.5:n.*54A=
ENST00000382381.7:c.*54A=	ENSP00000371818.3:n.*54A=
NM_001089.2:c.*54A=	NP_001080.2:n.*54A=
NM_001089.3:c.*54A= MANE Select	NP_001080.2:n.*54A=