Canonical Allele Identifier: CA394305592

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328322T>G (hg19) ; chr16:g.2278321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278321T>G , CM000678.2:g.2278321T>G	GRCh38
NC_000016.9:g.2328322T>G , CM000678.1:g.2328322T>G	GRCh37
NC_000016.8:g.2268323T>G	NCBI36
NG_011790.1:g.67426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4685A>C MANE Select	ENSP00000301732.5:p.Glu1562Ala
ENST00000301732.9:c.4685A>C	ENSP00000301732.5:p.Glu1562Ala
ENST00000382381.7:c.4511A>C	ENSP00000371818.3:p.Glu1504Ala
ENST00000566200.1:n.1206A>C
NM_001089.2:c.4685A>C	NP_001080.2:p.Glu1562Ala
NM_001089.3:c.4685A>C MANE Select	NP_001080.2:p.Glu1562Ala