Canonical Allele Identifier: CA584429196

Gene: SLC30A8

Linked Data

• dbSNP Id: rs144972090
• gnomAD v2: 8-118185682-G-C
• gnomAD v3: 8-117173443-G-C
• gnomAD v4: 8-117173443-G-C
• MyVariant Identifiers: chr8:g.118185682G>C (hg19) ; chr8:g.117173443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117173443G>C , CM000670.2:g.117173443G>C	GRCh38
NC_000008.10:g.118185682G>C , CM000670.1:g.118185682G>C	GRCh37
NC_000008.9:g.118254863G>C	NCBI36
NG_016991.1:g.228171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.*762G>C MANE Select	ENSP00000415011.2:n.*762G>C
ENST00000427715.2:c.*762G>C	ENSP00000407505.2:n.*762G>C
ENST00000456015.6:c.1872G>C	ENSP00000415011.2:n.1872G>C
ENST00000519688.5:c.*762G>C	ENSP00000431069.1:n.*762G>C
NM_001172811.1:c.*762G>C	NP_001166282.1:n.*762G>C
NM_001172813.1:c.*762G>C	NP_001166284.1:n.*762G>C
NM_001172814.1:c.*762G>C	NP_001166285.1:n.*762G>C
NM_001172815.1:c.*762G>C	NP_001166286.1:n.*762G>C
NM_173851.2:c.*762G>C	NP_776250.2:n.*762G>C
XM_011516881.1:c.*762G>C	XP_011515183.1:n.*762G>C
XM_011516882.1:c.*762G>C	XP_011515184.1:n.*762G>C
XR_928566.1:n.965C>G
XR_928567.1:n.558C>G
XR_928568.1:n.763C>G
XR_928569.1:n.806C>G
XR_928570.1:n.806C>G
NM_001172815.2:c.*762G>C	NP_001166286.1:n.*762G>C
XM_024447083.1:c.*762G>C	XP_024302851.1:n.*762G>C
XR_001746038.1:n.750C>G
XR_928566.2:n.908C>G
XR_928567.2:n.521C>G
XR_928568.3:n.761C>G
XR_928569.2:n.759C>G
XR_928570.2:n.759C>G
NM_001172811.2:c.*762G>C	NP_001166282.1:n.*762G>C
NM_001172813.2:c.*762G>C	NP_001166284.1:n.*762G>C
NM_001172814.2:c.*762G>C	NP_001166285.1:n.*762G>C
NM_173851.3:c.*762G>C MANE Select	NP_776250.2:n.*762G>C
NM_001172815.3:c.*762G>C	NP_001166286.1:n.*762G>C