Canonical Allele Identifier: CA394306153

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328421A>T (hg19) ; chr16:g.2278420A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278420A>T , CM000678.2:g.2278420A>T	GRCh38
NC_000016.9:g.2328421A>T , CM000678.1:g.2328421A>T	GRCh37
NC_000016.8:g.2268422A>T	NCBI36
NG_011790.1:g.67327T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4586T>A MANE Select	ENSP00000301732.5:p.Leu1529Gln
ENST00000301732.9:c.4586T>A	ENSP00000301732.5:p.Leu1529Gln
ENST00000382381.7:c.4412T>A	ENSP00000371818.3:p.Leu1471Gln
ENST00000566200.1:n.1107T>A
NM_001089.2:c.4586T>A	NP_001080.2:p.Leu1529Gln
NM_001089.3:c.4586T>A MANE Select	NP_001080.2:p.Leu1529Gln