Canonical Allele Identifier: CA182810

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 178700
• ClinVar RCV Id: RCV000155457 ; RCV000758248 ; RCV001517013 ; RCV002390351
• dbSNP Id: rs141621969
• ExAC: 16:2350115 G / T
• gnomAD v2: 16-2350115-G-T
• gnomAD v3: 16-2300114-G-T
• gnomAD v4: 16-2300114-G-T
• MyVariant Identifiers: chr16:g.2350115G>T (hg19) ; chr16:g.2300114G>T (hg38)
• PubMed: PMID:18492541

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2300114G>T , CM000678.2:g.2300114G>T	GRCh38
NC_000016.9:g.2350115G>T , CM000678.1:g.2350115G>T	GRCh37
NC_000016.8:g.2290116G>T	NCBI36
NG_011790.1:g.45633C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.1502C>A MANE Select	ENSP00000301732.5:p.Ala501Glu
ENST00000301732.9:c.1502C>A	ENSP00000301732.5:p.Ala501Glu
ENST00000382381.7:c.1328C>A	ENSP00000371818.3:p.Ala443Glu
ENST00000563623.5:n.2065C>A
NM_001089.2:c.1502C>A	NP_001080.2:p.Ala501Glu
NM_001089.3:c.1502C>A MANE Select	NP_001080.2:p.Ala501Glu