Canonical Allele Identifier: CA15543067
Gene: SLC30A8 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.117172786G>A
GRCh37 chr8:g.118185025G>A
gnomAD v2:
8:118185025 G / A
gnomAD v3:
8:117172786 G / A
gnomAD v4:
chr8-117172786-G-A
Joint Max Group AF 0.43399128 (EAS)
Genomes Max Group AF 0.44034589 (EAS)
Exomes Max Group AF 0.43142787 (EAS)
dbSNP:
3802177
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117172786G>A , CM000670.2:g.117172786G>A GRCh38
NC_000008.10:g.118185025G>A , CM000670.1:g.118185025G>A GRCh37
NC_000008.9:g.118254206G>A NCBI36
NG_016991.1:g.227514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456015.7:c.*105G>A MANE Select ENSP00000415011.2:n.*105G>A
ENST00000427715.2:c.*105G>A ENSP00000407505.2:n.*105G>A
ENST00000456015.6:c.1215G>A ENSP00000415011.2:n.1215G>A
ENST00000519688.5:c.*105G>A ENSP00000431069.1:n.*105G>A
ENST00000521243.5:c.*105G>A ENSP00000428545.1:n.*105G>A
NM_001172811.1:c.*105G>A NP_001166282.1:n.*105G>A
NM_001172813.1:c.*105G>A NP_001166284.1:n.*105G>A
NM_001172814.1:c.*105G>A NP_001166285.1:n.*105G>A
NM_001172815.1:c.*105G>A NP_001166286.1:n.*105G>A
NM_173851.2:c.*105G>A NP_776250.2:n.*105G>A
XM_011516881.1:c.*105G>A XP_011515183.1:n.*105G>A
XM_011516882.1:c.*105G>A XP_011515184.1:n.*105G>A
XR_928569.1:n.890-41C>T
XR_928570.1:n.890-41C>T
NM_001172815.2:c.*105G>A NP_001166286.1:n.*105G>A
XM_024447083.1:c.*105G>A XP_024302851.1:n.*105G>A
XR_928569.2:n.843-41C>T
XR_928570.2:n.843-41C>T
NM_001172811.2:c.*105G>A NP_001166282.1:n.*105G>A
NM_001172813.2:c.*105G>A NP_001166284.1:n.*105G>A
NM_001172814.2:c.*105G>A NP_001166285.1:n.*105G>A
NM_173851.3:c.*105G>A MANE Select NP_776250.2:n.*105G>A
NM_001172815.3:c.*105G>A NP_001166286.1:n.*105G>A
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