Canonical Allele Identifier: CA394316954

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2335565T>A (hg19) ; chr16:g.2285564T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285564T>A , CM000678.2:g.2285564T>A	GRCh38
NC_000016.9:g.2335565T>A , CM000678.1:g.2335565T>A	GRCh37
NC_000016.8:g.2275566T>A	NCBI36
NG_011790.1:g.60183A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3361A>T MANE Select	ENSP00000301732.5:p.Ser1121Cys
ENST00000301732.9:c.3361A>T	ENSP00000301732.5:p.Ser1121Cys
ENST00000382381.7:c.3187A>T	ENSP00000371818.3:p.Ser1063Cys
NM_001089.2:c.3361A>T	NP_001080.2:p.Ser1121Cys
NM_001089.3:c.3361A>T MANE Select	NP_001080.2:p.Ser1121Cys