Canonical Allele Identifier: CA493092935

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328336C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278335C>T , CM000678.2:g.2278335C>T	GRCh38
NC_000016.9:g.2328336C>T , CM000678.1:g.2328336C>T	GRCh37
NC_000016.8:g.2268337C>T	NCBI36
NG_011790.1:g.67412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4671G>A MANE Select	ENSP00000301732.5:p.Val1557=
ENST00000301732.9:c.4671G>A	ENSP00000301732.5:p.Val1557=
ENST00000382381.7:c.4497G>A	ENSP00000371818.3:p.Val1499=
ENST00000566200.1:n.1192G>A
NM_001089.2:c.4671G>A	NP_001080.2:p.Val1557=
NM_001089.3:c.4671G>A MANE Select	NP_001080.2:p.Val1557=