Canonical Allele Identifier: CA394324735
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2339469T>A (hg19) chr16:g.2289468T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289468T>A , CM000678.2:g.2289468T>A GRCh38
NC_000016.9:g.2339469T>A , CM000678.1:g.2339469T>A GRCh37
NC_000016.8:g.2279470T>A NCBI36
NG_011790.1:g.56279A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2666A>T MANE Select ENSP00000301732.5:p.Glu889Val
ENST00000301732.9:c.2666A>T ENSP00000301732.5:p.Glu889Val
ENST00000382381.7:c.2492A>T ENSP00000371818.3:p.Glu831Val
ENST00000563623.5:n.3229A>T
NM_001089.2:c.2666A>T NP_001080.2:p.Glu889Val
NM_001089.3:c.2666A>T MANE Select NP_001080.2:p.Glu889Val
Search 100 bp 5'
Search 100 bp 3'