Canonical Allele Identifier: CA394305510
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2328310G>T (hg19) chr16:g.2278309G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278309G>T , CM000678.2:g.2278309G>T GRCh38
NC_000016.9:g.2328310G>T , CM000678.1:g.2328310G>T GRCh37
NC_000016.8:g.2268311G>T NCBI36
NG_011790.1:g.67438C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4697C>A MANE Select ENSP00000301732.5:p.Ala1566Asp
ENST00000301732.9:c.4697C>A ENSP00000301732.5:p.Ala1566Asp
ENST00000382381.7:c.4523C>A ENSP00000371818.3:p.Ala1508Asp
ENST00000566200.1:n.1218C>A
NM_001089.2:c.4697C>A NP_001080.2:p.Ala1566Asp
NM_001089.3:c.4697C>A MANE Select NP_001080.2:p.Ala1566Asp
Search 100 bp 5'
Search 100 bp 3'