Canonical Allele Identifier: CA493094656

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328453A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278452A>C , CM000678.2:g.2278452A>C	GRCh38
NC_000016.9:g.2328453A>C , CM000678.1:g.2328453A>C	GRCh37
NC_000016.8:g.2268454A>C	NCBI36
NG_011790.1:g.67295T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4554T>G MANE Select	ENSP00000301732.5:p.Gly1518=
ENST00000301732.9:c.4554T>G	ENSP00000301732.5:p.Gly1518=
ENST00000382381.7:c.4380T>G	ENSP00000371818.3:p.Gly1460=
ENST00000566200.1:n.1075T>G
NM_001089.2:c.4554T>G	NP_001080.2:p.Gly1518=
NM_001089.3:c.4554T>G MANE Select	NP_001080.2:p.Gly1518=