Canonical Allele Identifier: CA493167368

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2367730C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317729C>G , CM000678.2:g.2317729C>G	GRCh38
NC_000016.9:g.2367730C>G , CM000678.1:g.2367730C>G	GRCh37
NC_000016.8:g.2307731C>G	NCBI36
NG_011790.1:g.28018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.909G>C MANE Select	ENSP00000301732.5:p.Leu303=
ENST00000301732.9:c.909G>C	ENSP00000301732.5:p.Leu303=
ENST00000382381.7:c.909G>C	ENSP00000371818.3:p.Leu303=
ENST00000563623.5:n.1472G>C
NM_001089.2:c.909G>C	NP_001080.2:p.Leu303=
NM_001089.3:c.909G>C MANE Select	NP_001080.2:p.Leu303=