Canonical Allele Identifier: CA394352548

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2376175G>T (hg19) ; chr16:g.2326174G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326174G>T , CM000678.2:g.2326174G>T	GRCh38
NC_000016.9:g.2376175G>T , CM000678.1:g.2376175G>T	GRCh37
NC_000016.8:g.2316176G>T	NCBI36
NG_011790.1:g.19573C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.155C>A MANE Select	ENSP00000301732.5:p.Pro52His
ENST00000301732.9:c.155C>A	ENSP00000301732.5:p.Pro52His
ENST00000382381.7:c.155C>A	ENSP00000371818.3:p.Pro52His
ENST00000563623.5:n.718C>A
ENST00000567910.1:c.155C>A	ENSP00000454397.1:p.Pro52His
NM_001089.2:c.155C>A	NP_001080.2:p.Pro52His
NM_001089.3:c.155C>A MANE Select	NP_001080.2:p.Pro52His