Canonical Allele Identifier: CA462465033

Gene: SLC30A8

Linked Data

• dbSNP Id: rs1377528598
• gnomAD v2: 8-118165223-T-G
• gnomAD v4: 8-117152984-T-G
• MyVariant Identifiers: chr8:g.118165223T>G (hg19) ; chr8:g.117152984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117152984T>G , CM000670.2:g.117152984T>G	GRCh38
NC_000008.10:g.118165223T>G , CM000670.1:g.118165223T>G	GRCh37
NC_000008.9:g.118234404T>G	NCBI36
NG_016991.1:g.207712T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.312T>G MANE Select	ENSP00000415011.2:p.Ala104=
ENST00000427715.2:c.165T>G	ENSP00000407505.2:p.Ala55=
ENST00000456015.6:c.312T>G	ENSP00000415011.2:p.Ala104=
ENST00000519688.5:c.165T>G	ENSP00000431069.1:p.Ala55=
ENST00000521243.5:c.165T>G	ENSP00000428545.1:p.Ala55=
ENST00000524274.5:c.165T>G	ENSP00000427760.1:p.Ala55=
NM_001172811.1:c.165T>G	NP_001166282.1:p.Ala55=
NM_001172813.1:c.165T>G	NP_001166284.1:p.Ala55=
NM_001172814.1:c.165T>G	NP_001166285.1:p.Ala55=
NM_001172815.1:c.165T>G	NP_001166286.1:p.Ala55=
NM_173851.2:c.312T>G	NP_776250.2:p.Ala104=
XM_011516881.1:c.312T>G	XP_011515183.1:p.Ala104=
XM_011516882.1:c.165T>G	XP_011515184.1:p.Ala55=
XR_928569.1:n.1020+19631A>C
XR_928570.1:n.1020+19631A>C
NM_001172815.2:c.165T>G	NP_001166286.1:p.Ala55=
XM_024447083.1:c.165T>G	XP_024302851.1:p.Ala55=
XR_928569.2:n.973+19631A>C
XR_928570.2:n.973+19631A>C
NM_001172811.2:c.165T>G	NP_001166282.1:p.Ala55=
NM_001172813.2:c.165T>G	NP_001166284.1:p.Ala55=
NM_001172814.2:c.165T>G	NP_001166285.1:p.Ala55=
NM_173851.3:c.312T>G MANE Select	NP_776250.2:p.Ala104=
NM_001172815.3:c.165T>G	NP_001166286.1:p.Ala55=