Canonical Allele Identifier: CA394316662
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2335513A>T (hg19) chr16:g.2285512A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285512A>T , CM000678.2:g.2285512A>T GRCh38
NC_000016.9:g.2335513A>T , CM000678.1:g.2335513A>T GRCh37
NC_000016.8:g.2275514A>T NCBI36
NG_011790.1:g.60235T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3413T>A MANE Select ENSP00000301732.5:p.Val1138Glu
ENST00000301732.9:c.3413T>A ENSP00000301732.5:p.Val1138Glu
ENST00000382381.7:c.3239T>A ENSP00000371818.3:p.Val1080Glu
NM_001089.2:c.3413T>A NP_001080.2:p.Val1138Glu
NM_001089.3:c.3413T>A MANE Select NP_001080.2:p.Val1138Glu
Search 100 bp 5'
Search 100 bp 3'