Canonical Allele Identifier: CA394305952

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328385G>T (hg19) ; chr16:g.2278384G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278384G>T , CM000678.2:g.2278384G>T	GRCh38
NC_000016.9:g.2328385G>T , CM000678.1:g.2328385G>T	GRCh37
NC_000016.8:g.2268386G>T	NCBI36
NG_011790.1:g.67363C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4622C>A MANE Select	ENSP00000301732.5:p.Pro1541Gln
ENST00000301732.9:c.4622C>A	ENSP00000301732.5:p.Pro1541Gln
ENST00000382381.7:c.4448C>A	ENSP00000371818.3:p.Pro1483Gln
ENST00000566200.1:n.1143C>A
NM_001089.2:c.4622C>A	NP_001080.2:p.Pro1541Gln
NM_001089.3:c.4622C>A MANE Select	NP_001080.2:p.Pro1541Gln