Canonical Allele Identifier: CA2516126578
Gene: SLC30A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117173751T>A , CM000670.2:g.117173751T>A GRCh38
NC_000008.10:g.118185990T>A , CM000670.1:g.118185990T>A GRCh37
NC_000008.9:g.118255171T>A NCBI36
NG_016991.1:g.228479T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456015.7:c.*1070T>A MANE Select ENSP00000415011.2:n.*1070T>A
ENST00000427715.2:c.*1070T>A ENSP00000407505.2:n.*1070T>A
ENST00000456015.6:c.2180T>A ENSP00000415011.2:n.2180T>A
ENST00000519688.5:c.*1070T>A ENSP00000431069.1:n.*1070T>A
NM_001172811.1:c.*1070T>A NP_001166282.1:n.*1070T>A
NM_001172813.1:c.*1070T>A NP_001166284.1:n.*1070T>A
NM_001172814.1:c.*1070T>A NP_001166285.1:n.*1070T>A
NM_001172815.1:c.*1070T>A NP_001166286.1:n.*1070T>A
NM_173851.2:c.*1070T>A NP_776250.2:n.*1070T>A
XM_011516881.1:c.*1070T>A XP_011515183.1:n.*1070T>A
XM_011516882.1:c.*1070T>A XP_011515184.1:n.*1070T>A
XR_928566.1:n.920-263A>T
XR_928567.1:n.513-263A>T
XR_928568.1:n.718-263A>T
XR_928569.1:n.761-263A>T
XR_928570.1:n.761-263A>T
NM_001172815.2:c.*1070T>A NP_001166286.1:n.*1070T>A
XM_024447083.1:c.*1070T>A XP_024302851.1:n.*1070T>A
XR_001746038.1:n.705-263A>T
XR_928566.2:n.863-263A>T
XR_928567.2:n.476-263A>T
XR_928568.3:n.716-263A>T
XR_928569.2:n.714-263A>T
XR_928570.2:n.714-263A>T
NM_001172811.2:c.*1070T>A NP_001166282.1:n.*1070T>A
NM_001172813.2:c.*1070T>A NP_001166284.1:n.*1070T>A
NM_001172814.2:c.*1070T>A NP_001166285.1:n.*1070T>A
NM_173851.3:c.*1070T>A MANE Select NP_776250.2:n.*1070T>A
NM_001172815.3:c.*1070T>A NP_001166286.1:n.*1070T>A