Canonical Allele Identifier: CA2731750356

Gene: ABCA3

Linked Data

• dbSNP Id: rs2141741117

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326400A>G , CM000678.2:g.2326400A>G	GRCh38
NC_000016.9:g.2376401A>G , CM000678.1:g.2376401A>G	GRCh37
NC_000016.8:g.2316402A>G	NCBI36
NG_011790.1:g.19347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.54+13T>C MANE Select	ENSP00000301732.5:n.54+13T>C
ENST00000301732.9:c.54+13T>C	ENSP00000301732.5:n.54+13T>C
ENST00000382381.7:c.54+13T>C	ENSP00000371818.3:n.54+13T>C
ENST00000563623.5:n.617+13T>C
ENST00000567910.1:c.54+13T>C	ENSP00000454397.1:n.54+13T>C
NM_001089.2:c.54+13T>C	NP_001080.2:n.54+13T>C
NM_001089.3:c.54+13T>C MANE Select	NP_001080.2:n.54+13T>C