Canonical Allele Identifier: CA2575882797

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2299617T>C , CM000678.2:g.2299617T>C	GRCh38
NC_000016.9:g.2349618T>C , CM000678.1:g.2349618T>C	GRCh37
NC_000016.8:g.2289619T>C	NCBI36
NG_011790.1:g.46130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1612-85A>G MANE Select	ENSP00000301732.5:n.1612-85A>G
ENST00000301732.9:c.1612-85A>G	ENSP00000301732.5:n.1612-85A>G
ENST00000382381.7:c.1438-85A>G	ENSP00000371818.3:n.1438-85A>G
ENST00000563623.5:n.2175-85A>G
NM_001089.2:c.1612-85A>G	NP_001080.2:n.1612-85A>G
NM_001089.3:c.1612-85A>G MANE Select	NP_001080.2:n.1612-85A>G