Canonical Allele Identifier: CA2688340740

Gene: SLC30A8

Linked Data

• gnomAD v4: 8-117173731-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117173731T>C , CM000670.2:g.117173731T>C	GRCh38
NC_000008.10:g.118185970T>C , CM000670.1:g.118185970T>C	GRCh37
NC_000008.9:g.118255151T>C	NCBI36
NG_016991.1:g.228459T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.*1050T>C MANE Select	ENSP00000415011.2:n.*1050T>C
ENST00000427715.2:c.*1050T>C	ENSP00000407505.2:n.*1050T>C
ENST00000456015.6:c.2160T>C	ENSP00000415011.2:n.2160T>C
ENST00000519688.5:c.*1050T>C	ENSP00000431069.1:n.*1050T>C
NM_001172811.1:c.*1050T>C	NP_001166282.1:n.*1050T>C
NM_001172813.1:c.*1050T>C	NP_001166284.1:n.*1050T>C
NM_001172814.1:c.*1050T>C	NP_001166285.1:n.*1050T>C
NM_001172815.1:c.*1050T>C	NP_001166286.1:n.*1050T>C
NM_173851.2:c.*1050T>C	NP_776250.2:n.*1050T>C
XM_011516881.1:c.*1050T>C	XP_011515183.1:n.*1050T>C
XM_011516882.1:c.*1050T>C	XP_011515184.1:n.*1050T>C
XR_928566.1:n.920-243A>G
XR_928567.1:n.513-243A>G
XR_928568.1:n.718-243A>G
XR_928569.1:n.761-243A>G
XR_928570.1:n.761-243A>G
NM_001172815.2:c.*1050T>C	NP_001166286.1:n.*1050T>C
XM_024447083.1:c.*1050T>C	XP_024302851.1:n.*1050T>C
XR_001746038.1:n.705-243A>G
XR_928566.2:n.863-243A>G
XR_928567.2:n.476-243A>G
XR_928568.3:n.716-243A>G
XR_928569.2:n.714-243A>G
XR_928570.2:n.714-243A>G
NM_001172811.2:c.*1050T>C	NP_001166282.1:n.*1050T>C
NM_001172813.2:c.*1050T>C	NP_001166284.1:n.*1050T>C
NM_001172814.2:c.*1050T>C	NP_001166285.1:n.*1050T>C
NM_173851.3:c.*1050T>C MANE Select	NP_776250.2:n.*1050T>C
NM_001172815.3:c.*1050T>C	NP_001166286.1:n.*1050T>C