Canonical Allele Identifier: CA371913058

Gene: SLC30A8

Linked Data

• MyVariant Identifiers: chr8:g.118184791C>A (hg19) ; chr8:g.117172552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117172552C>A , CM000670.2:g.117172552C>A	GRCh38
NC_000008.10:g.118184791C>A , CM000670.1:g.118184791C>A	GRCh37
NC_000008.9:g.118253972C>A	NCBI36
NG_016991.1:g.227280C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456015.7:c.981C>A MANE Select	ENSP00000415011.2:p.Ser327Arg
ENST00000427715.2:c.834C>A	ENSP00000407505.2:p.Ser278Arg
ENST00000456015.6:c.981C>A	ENSP00000415011.2:p.Ser327Arg
ENST00000519688.5:c.834C>A	ENSP00000431069.1:p.Ser278Arg
ENST00000521243.5:c.834C>A	ENSP00000428545.1:p.Ser278Arg
NM_001172811.1:c.834C>A	NP_001166282.1:p.Ser278Arg
NM_001172813.1:c.834C>A	NP_001166284.1:p.Ser278Arg
NM_001172814.1:c.834C>A	NP_001166285.1:p.Ser278Arg
NM_001172815.1:c.834C>A	NP_001166286.1:p.Ser278Arg
NM_173851.2:c.981C>A	NP_776250.2:p.Ser327Arg
XM_011516881.1:c.981C>A	XP_011515183.1:p.Ser327Arg
XM_011516882.1:c.834C>A	XP_011515184.1:p.Ser278Arg
XR_928569.1:n.1020+63G>T
XR_928570.1:n.1020+63G>T
NM_001172815.2:c.834C>A	NP_001166286.1:p.Ser278Arg
XM_024447083.1:c.834C>A	XP_024302851.1:p.Ser278Arg
XR_928569.2:n.973+63G>T
XR_928570.2:n.973+63G>T
NM_001172811.2:c.834C>A	NP_001166282.1:p.Ser278Arg
NM_001172813.2:c.834C>A	NP_001166284.1:p.Ser278Arg
NM_001172814.2:c.834C>A	NP_001166285.1:p.Ser278Arg
NM_173851.3:c.981C>A MANE Select	NP_776250.2:p.Ser327Arg
NM_001172815.3:c.834C>A	NP_001166286.1:p.Ser278Arg