Canonical Allele Identifier: CA184322554

Gene: SLC30A8

Linked Data

• dbSNP Id: rs867843501
• gnomAD v3: 8-117153003-C-T
• gnomAD v4: 8-117153003-C-T
• MyVariant Identifiers: chr8:g.118165242C>T (hg19) ; chr8:g.117153003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117153003C>T , CM000670.2:g.117153003C>T	GRCh38
NC_000008.10:g.118165242C>T , CM000670.1:g.118165242C>T	GRCh37
NC_000008.9:g.118234423C>T	NCBI36
NG_016991.1:g.207731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.331C>T MANE Select	ENSP00000415011.2:p.Leu111=
ENST00000427715.2:c.184C>T	ENSP00000407505.2:p.Leu62=
ENST00000456015.6:c.331C>T	ENSP00000415011.2:p.Leu111=
ENST00000519688.5:c.184C>T	ENSP00000431069.1:p.Leu62=
ENST00000521243.5:c.184C>T	ENSP00000428545.1:p.Leu62=
ENST00000524274.5:c.184C>T	ENSP00000427760.1:p.Leu62=
NM_001172811.1:c.184C>T	NP_001166282.1:p.Leu62=
NM_001172813.1:c.184C>T	NP_001166284.1:p.Leu62=
NM_001172814.1:c.184C>T	NP_001166285.1:p.Leu62=
NM_001172815.1:c.184C>T	NP_001166286.1:p.Leu62=
NM_173851.2:c.331C>T	NP_776250.2:p.Leu111=
XM_011516881.1:c.331C>T	XP_011515183.1:p.Leu111=
XM_011516882.1:c.184C>T	XP_011515184.1:p.Leu62=
XR_928569.1:n.1020+19612G>A
XR_928570.1:n.1020+19612G>A
NM_001172815.2:c.184C>T	NP_001166286.1:p.Leu62=
XM_024447083.1:c.184C>T	XP_024302851.1:p.Leu62=
XR_928569.2:n.973+19612G>A
XR_928570.2:n.973+19612G>A
NM_001172811.2:c.184C>T	NP_001166282.1:p.Leu62=
NM_001172813.2:c.184C>T	NP_001166284.1:p.Leu62=
NM_001172814.2:c.184C>T	NP_001166285.1:p.Leu62=
NM_173851.3:c.331C>T MANE Select	NP_776250.2:p.Leu111=
NM_001172815.3:c.184C>T	NP_001166286.1:p.Leu62=