Canonical Allele Identifier: CA394305930

Gene: ABCA3

Linked Data

• dbSNP Id: rs1289660665
• MyVariant Identifiers: chr16:g.2328382G>A (hg19) ; chr16:g.2278381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278381G>A , CM000678.2:g.2278381G>A	GRCh38
NC_000016.9:g.2328382G>A , CM000678.1:g.2328382G>A	GRCh37
NC_000016.8:g.2268383G>A	NCBI36
NG_011790.1:g.67366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4625C>T MANE Select	ENSP00000301732.5:p.Ser1542Phe
ENST00000301732.9:c.4625C>T	ENSP00000301732.5:p.Ser1542Phe
ENST00000382381.7:c.4451C>T	ENSP00000371818.3:p.Ser1484Phe
ENST00000566200.1:n.1146C>T
NM_001089.2:c.4625C>T	NP_001080.2:p.Ser1542Phe
NM_001089.3:c.4625C>T MANE Select	NP_001080.2:p.Ser1542Phe