Canonical Allele Identifier: CA394306092

Gene: ABCA3

Linked Data

• MyVariant Identifiers: chr16:g.2328407C>T (hg19) ; chr16:g.2278406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278406C>T , CM000678.2:g.2278406C>T	GRCh38
NC_000016.9:g.2328407C>T , CM000678.1:g.2328407C>T	GRCh37
NC_000016.8:g.2268408C>T	NCBI36
NG_011790.1:g.67341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4600G>A MANE Select	ENSP00000301732.5:p.Ala1534Thr
ENST00000301732.9:c.4600G>A	ENSP00000301732.5:p.Ala1534Thr
ENST00000382381.7:c.4426G>A	ENSP00000371818.3:p.Ala1476Thr
ENST00000566200.1:n.1121G>A
NM_001089.2:c.4600G>A	NP_001080.2:p.Ala1534Thr
NM_001089.3:c.4600G>A MANE Select	NP_001080.2:p.Ala1534Thr