Canonical Allele Identifier: CA394343342

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2367647A>T (hg19) ; chr16:g.2317646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317646A>T , CM000678.2:g.2317646A>T	GRCh38
NC_000016.9:g.2367647A>T , CM000678.1:g.2367647A>T	GRCh37
NC_000016.8:g.2307648A>T	NCBI36
NG_011790.1:g.28101T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.990+2T>A MANE Select	ENSP00000301732.5:n.990+2T>A
ENST00000301732.9:c.990+2T>A	ENSP00000301732.5:n.990+2T>A
ENST00000382381.7:c.990+2T>A	ENSP00000371818.3:n.990+2T>A
ENST00000563623.5:n.1553+2T>A
NM_001089.2:c.990+2T>A	NP_001080.2:n.990+2T>A
NM_001089.3:c.990+2T>A MANE Select	NP_001080.2:n.990+2T>A