Canonical Allele Identifier: CA394316765

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2335534T>C (hg19) ; chr16:g.2285533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285533T>C , CM000678.2:g.2285533T>C	GRCh38
NC_000016.9:g.2335534T>C , CM000678.1:g.2335534T>C	GRCh37
NC_000016.8:g.2275535T>C	NCBI36
NG_011790.1:g.60214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3392A>G MANE Select	ENSP00000301732.5:p.Gln1131Arg
ENST00000301732.9:c.3392A>G	ENSP00000301732.5:p.Gln1131Arg
ENST00000382381.7:c.3218A>G	ENSP00000371818.3:p.Gln1073Arg
NM_001089.2:c.3392A>G	NP_001080.2:p.Gln1131Arg
NM_001089.3:c.3392A>G MANE Select	NP_001080.2:p.Gln1131Arg