Canonical Allele Identifier: CA394343827

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2367743A>C (hg19) ; chr16:g.2317742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317742A>C , CM000678.2:g.2317742A>C	GRCh38
NC_000016.9:g.2367743A>C , CM000678.1:g.2367743A>C	GRCh37
NC_000016.8:g.2307744A>C	NCBI36
NG_011790.1:g.28005T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.896T>G MANE Select	ENSP00000301732.5:p.Leu299Arg
ENST00000301732.9:c.896T>G	ENSP00000301732.5:p.Leu299Arg
ENST00000382381.7:c.896T>G	ENSP00000371818.3:p.Leu299Arg
ENST00000563623.5:n.1459T>G
NM_001089.2:c.896T>G	NP_001080.2:p.Leu299Arg
NM_001089.3:c.896T>G MANE Select	NP_001080.2:p.Leu299Arg