Canonical Allele Identifier: CA493092819

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328330T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278329T>G , CM000678.2:g.2278329T>G	GRCh38
NC_000016.9:g.2328330T>G , CM000678.1:g.2328330T>G	GRCh37
NC_000016.8:g.2268331T>G	NCBI36
NG_011790.1:g.67418A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4677A>C MANE Select	ENSP00000301732.5:p.Arg1559=
ENST00000301732.9:c.4677A>C	ENSP00000301732.5:p.Arg1559=
ENST00000382381.7:c.4503A>C	ENSP00000371818.3:p.Arg1501=
ENST00000566200.1:n.1198A>C
NM_001089.2:c.4677A>C	NP_001080.2:p.Arg1559=
NM_001089.3:c.4677A>C MANE Select	NP_001080.2:p.Arg1559=