Canonical Allele Identifier: CA493125429

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2335566G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285565G>A , CM000678.2:g.2285565G>A	GRCh38
NC_000016.9:g.2335566G>A , CM000678.1:g.2335566G>A	GRCh37
NC_000016.8:g.2275567G>A	NCBI36
NG_011790.1:g.60182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3360C>T MANE Select	ENSP00000301732.5:p.Val1120=
ENST00000301732.9:c.3360C>T	ENSP00000301732.5:p.Val1120=
ENST00000382381.7:c.3186C>T	ENSP00000371818.3:p.Val1062=
NM_001089.2:c.3360C>T	NP_001080.2:p.Val1120=
NM_001089.3:c.3360C>T MANE Select	NP_001080.2:p.Val1120=