Canonical Allele Identifier: CA2202176725

Gene: ABCA3

Linked Data

• dbSNP Id: rs1596874451

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337176A>C , CM000678.2:g.2337176A>C	GRCh38
NC_000016.9:g.2387177A>C , CM000678.1:g.2387177A>C	GRCh37
NC_000016.8:g.2327178A>C	NCBI36
NG_011790.1:g.8571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+3397T>G MANE Select	ENSP00000301732.5:n.-539+3397T>G
ENST00000301732.9:c.-539+3397T>G	ENSP00000301732.5:n.-539+3397T>G
ENST00000382381.7:c.-539+3397T>G	ENSP00000371818.3:n.-539+3397T>G
ENST00000563623.5:n.25+3397T>G
NM_001089.2:c.-539+3397T>G	NP_001080.2:n.-539+3397T>G
NM_001089.3:c.-539+3397T>G MANE Select	NP_001080.2:n.-539+3397T>G