Canonical Allele Identifier: CA371909542

Gene: SLC30A8

Linked Data

• MyVariant Identifiers: chr8:g.118165231T>A (hg19) ; chr8:g.117152992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117152992T>A , CM000670.2:g.117152992T>A	GRCh38
NC_000008.10:g.118165231T>A , CM000670.1:g.118165231T>A	GRCh37
NC_000008.9:g.118234412T>A	NCBI36
NG_016991.1:g.207720T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.320T>A MANE Select	ENSP00000415011.2:p.Leu107His
ENST00000427715.2:c.173T>A	ENSP00000407505.2:p.Leu58His
ENST00000456015.6:c.320T>A	ENSP00000415011.2:p.Leu107His
ENST00000519688.5:c.173T>A	ENSP00000431069.1:p.Leu58His
ENST00000521243.5:c.173T>A	ENSP00000428545.1:p.Leu58His
ENST00000524274.5:c.173T>A	ENSP00000427760.1:p.Leu58His
NM_001172811.1:c.173T>A	NP_001166282.1:p.Leu58His
NM_001172813.1:c.173T>A	NP_001166284.1:p.Leu58His
NM_001172814.1:c.173T>A	NP_001166285.1:p.Leu58His
NM_001172815.1:c.173T>A	NP_001166286.1:p.Leu58His
NM_173851.2:c.320T>A	NP_776250.2:p.Leu107His
XM_011516881.1:c.320T>A	XP_011515183.1:p.Leu107His
XM_011516882.1:c.173T>A	XP_011515184.1:p.Leu58His
XR_928569.1:n.1020+19623A>T
XR_928570.1:n.1020+19623A>T
NM_001172815.2:c.173T>A	NP_001166286.1:p.Leu58His
XM_024447083.1:c.173T>A	XP_024302851.1:p.Leu58His
XR_928569.2:n.973+19623A>T
XR_928570.2:n.973+19623A>T
NM_001172811.2:c.173T>A	NP_001166282.1:p.Leu58His
NM_001172813.2:c.173T>A	NP_001166284.1:p.Leu58His
NM_001172814.2:c.173T>A	NP_001166285.1:p.Leu58His
NM_173851.3:c.320T>A MANE Select	NP_776250.2:p.Leu107His
NM_001172815.3:c.173T>A	NP_001166286.1:p.Leu58His