Canonical Allele Identifier: CA394352276
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2376121G>T (hg19) chr16:g.2326120G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326120G>T , CM000678.2:g.2326120G>T GRCh38
NC_000016.9:g.2376121G>T , CM000678.1:g.2376121G>T GRCh37
NC_000016.8:g.2316122G>T NCBI36
NG_011790.1:g.19627C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.209C>A MANE Select ENSP00000301732.5:p.Thr70Asn
ENST00000301732.9:c.209C>A ENSP00000301732.5:p.Thr70Asn
ENST00000382381.7:c.209C>A ENSP00000371818.3:p.Thr70Asn
ENST00000563623.5:n.772C>A
ENST00000567910.1:c.209C>A ENSP00000454397.1:p.Thr70Asn
NM_001089.2:c.209C>A NP_001080.2:p.Thr70Asn
NM_001089.3:c.209C>A MANE Select NP_001080.2:p.Thr70Asn
Search 100 bp 5'
Search 100 bp 3'