Canonical Allele Identifier: CA2688340712

Gene: SLC30A8

Linked Data

• gnomAD v4: 8-117173631-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117173631C>A , CM000670.2:g.117173631C>A	GRCh38
NC_000008.10:g.118185870C>A , CM000670.1:g.118185870C>A	GRCh37
NC_000008.9:g.118255051C>A	NCBI36
NG_016991.1:g.228359C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.*950C>A MANE Select	ENSP00000415011.2:n.*950C>A
ENST00000427715.2:c.*950C>A	ENSP00000407505.2:n.*950C>A
ENST00000456015.6:c.2060C>A	ENSP00000415011.2:n.2060C>A
ENST00000519688.5:c.*950C>A	ENSP00000431069.1:n.*950C>A
NM_001172811.1:c.*950C>A	NP_001166282.1:n.*950C>A
NM_001172813.1:c.*950C>A	NP_001166284.1:n.*950C>A
NM_001172814.1:c.*950C>A	NP_001166285.1:n.*950C>A
NM_001172815.1:c.*950C>A	NP_001166286.1:n.*950C>A
NM_173851.2:c.*950C>A	NP_776250.2:n.*950C>A
XM_011516881.1:c.*950C>A	XP_011515183.1:n.*950C>A
XM_011516882.1:c.*950C>A	XP_011515184.1:n.*950C>A
XR_928566.1:n.920-143G>T
XR_928567.1:n.513-143G>T
XR_928568.1:n.718-143G>T
XR_928569.1:n.761-143G>T
XR_928570.1:n.761-143G>T
NM_001172815.2:c.*950C>A	NP_001166286.1:n.*950C>A
XM_024447083.1:c.*950C>A	XP_024302851.1:n.*950C>A
XR_001746038.1:n.705-143G>T
XR_928566.2:n.863-143G>T
XR_928567.2:n.476-143G>T
XR_928568.3:n.716-143G>T
XR_928569.2:n.714-143G>T
XR_928570.2:n.714-143G>T
NM_001172811.2:c.*950C>A	NP_001166282.1:n.*950C>A
NM_001172813.2:c.*950C>A	NP_001166284.1:n.*950C>A
NM_001172814.2:c.*950C>A	NP_001166285.1:n.*950C>A
NM_173851.3:c.*950C>A MANE Select	NP_776250.2:n.*950C>A
NM_001172815.3:c.*950C>A	NP_001166286.1:n.*950C>A