Canonical Allele Identifier: CA493167156
Gene: ABCA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2367679G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317678G>A , CM000678.2:g.2317678G>A GRCh38
NC_000016.9:g.2367679G>A , CM000678.1:g.2367679G>A GRCh37
NC_000016.8:g.2307680G>A NCBI36
NG_011790.1:g.28069C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.960C>T MANE Select ENSP00000301732.5:p.Ala320=
ENST00000301732.9:c.960C>T ENSP00000301732.5:p.Ala320=
ENST00000382381.7:c.960C>T ENSP00000371818.3:p.Ala320=
ENST00000563623.5:n.1523C>T
NM_001089.2:c.960C>T NP_001080.2:p.Ala320=
NM_001089.3:c.960C>T MANE Select NP_001080.2:p.Ala320=
Search 100 bp 5'
Search 100 bp 3'