Canonical Allele Identifier: CA493361908

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 2823494
• ClinVar RCV Id: RCV003706710
• MyVariant Identifiers: chr16:g.2376177C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326176C>T , CM000678.2:g.2326176C>T	GRCh38
NC_000016.9:g.2376177C>T , CM000678.1:g.2376177C>T	GRCh37
NC_000016.8:g.2316178C>T	NCBI36
NG_011790.1:g.19571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.153G>A MANE Select	ENSP00000301732.5:p.Val51=
ENST00000301732.9:c.153G>A	ENSP00000301732.5:p.Val51=
ENST00000382381.7:c.153G>A	ENSP00000371818.3:p.Val51=
ENST00000563623.5:n.716G>A
ENST00000567910.1:c.153G>A	ENSP00000454397.1:p.Val51=
NM_001089.2:c.153G>A	NP_001080.2:p.Val51=
NM_001089.3:c.153G>A MANE Select	NP_001080.2:p.Val51=