Canonical Allele Identifier: CA493168758

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2376417C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326416C>G , CM000678.2:g.2326416C>G	GRCh38
NC_000016.9:g.2376417C>G , CM000678.1:g.2376417C>G	GRCh37
NC_000016.8:g.2316418C>G	NCBI36
NG_011790.1:g.19331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.51G>C MANE Select	ENSP00000301732.5:p.Leu17=
ENST00000301732.9:c.51G>C	ENSP00000301732.5:p.Leu17=
ENST00000382381.7:c.51G>C	ENSP00000371818.3:p.Leu17=
ENST00000563623.5:n.614G>C
ENST00000567910.1:c.51G>C	ENSP00000454397.1:p.Leu17=
NM_001089.2:c.51G>C	NP_001080.2:p.Leu17=
NM_001089.3:c.51G>C MANE Select	NP_001080.2:p.Leu17=