Canonical Allele Identifier: CA394353211

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2376412A>C (hg19) ; chr16:g.2326411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326411A>C , CM000678.2:g.2326411A>C	GRCh38
NC_000016.9:g.2376412A>C , CM000678.1:g.2376412A>C	GRCh37
NC_000016.8:g.2316413A>C	NCBI36
NG_011790.1:g.19336T>G

Transcript Alleles

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