Canonical Allele Identifier: CA394305977

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328388T>G (hg19) ; chr16:g.2278387T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278387T>G , CM000678.2:g.2278387T>G	GRCh38
NC_000016.9:g.2328388T>G , CM000678.1:g.2328388T>G	GRCh37
NC_000016.8:g.2268389T>G	NCBI36
NG_011790.1:g.67360A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4619A>C MANE Select	ENSP00000301732.5:p.Glu1540Ala
ENST00000301732.9:c.4619A>C	ENSP00000301732.5:p.Glu1540Ala
ENST00000382381.7:c.4445A>C	ENSP00000371818.3:p.Glu1482Ala
ENST00000566200.1:n.1140A>C
NM_001089.2:c.4619A>C	NP_001080.2:p.Glu1540Ala
NM_001089.3:c.4619A>C MANE Select	NP_001080.2:p.Glu1540Ala