Canonical Allele Identifier: CA394317015

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2335573A>T (hg19) ; chr16:g.2285572A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285572A>T , CM000678.2:g.2285572A>T	GRCh38
NC_000016.9:g.2335573A>T , CM000678.1:g.2335573A>T	GRCh37
NC_000016.8:g.2275574A>T	NCBI36
NG_011790.1:g.60175T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3353T>A MANE Select	ENSP00000301732.5:p.Leu1118Gln
ENST00000301732.9:c.3353T>A	ENSP00000301732.5:p.Leu1118Gln
ENST00000382381.7:c.3179T>A	ENSP00000371818.3:p.Leu1060Gln
NM_001089.2:c.3353T>A	NP_001080.2:p.Leu1118Gln
NM_001089.3:c.3353T>A MANE Select	NP_001080.2:p.Leu1118Gln