Canonical Allele Identifier: CA2575883042

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326386T>C , CM000678.2:g.2326386T>C	GRCh38
NC_000016.9:g.2376387T>C , CM000678.1:g.2376387T>C	GRCh37
NC_000016.8:g.2316388T>C	NCBI36
NG_011790.1:g.19361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.54+27A>G MANE Select	ENSP00000301732.5:n.54+27A>G
ENST00000301732.9:c.54+27A>G	ENSP00000301732.5:n.54+27A>G
ENST00000382381.7:c.54+27A>G	ENSP00000371818.3:n.54+27A>G
ENST00000563623.5:n.617+27A>G
ENST00000567910.1:c.54+27A>G	ENSP00000454397.1:n.54+27A>G
NM_001089.2:c.54+27A>G	NP_001080.2:n.54+27A>G
NM_001089.3:c.54+27A>G MANE Select	NP_001080.2:n.54+27A>G