Canonical Allele Identifier: CA394324722
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2339466T>G (hg19) chr16:g.2289465T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289465T>G , CM000678.2:g.2289465T>G GRCh38
NC_000016.9:g.2339466T>G , CM000678.1:g.2339466T>G GRCh37
NC_000016.8:g.2279467T>G NCBI36
NG_011790.1:g.56282A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2669A>C MANE Select ENSP00000301732.5:p.Glu890Ala
ENST00000301732.9:c.2669A>C ENSP00000301732.5:p.Glu890Ala
ENST00000382381.7:c.2495A>C ENSP00000371818.3:p.Glu832Ala
ENST00000563623.5:n.3232A>C
NM_001089.2:c.2669A>C NP_001080.2:p.Glu890Ala
NM_001089.3:c.2669A>C MANE Select NP_001080.2:p.Glu890Ala
Search 100 bp 5'
Search 100 bp 3'