Canonical Allele Identifier: CA371909931
Gene: SLC30A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117153041G>T , CM000670.2:g.117153041G>T GRCh38
NC_000008.10:g.118165280G>T , CM000670.1:g.118165280G>T GRCh37
NC_000008.9:g.118234461G>T NCBI36
NG_016991.1:g.207769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456015.7:c.369G>T MANE Select ENSP00000415011.2:p.Leu123Phe
ENST00000427715.2:c.222G>T ENSP00000407505.2:p.Leu74Phe
ENST00000456015.6:c.369G>T ENSP00000415011.2:p.Leu123Phe
ENST00000519688.5:c.222G>T ENSP00000431069.1:p.Leu74Phe
ENST00000521243.5:c.222G>T ENSP00000428545.1:p.Leu74Phe
ENST00000524274.5:c.222G>T ENSP00000427760.1:p.Leu74Phe
NM_001172811.1:c.222G>T NP_001166282.1:p.Leu74Phe
NM_001172813.1:c.222G>T NP_001166284.1:p.Leu74Phe
NM_001172814.1:c.222G>T NP_001166285.1:p.Leu74Phe
NM_001172815.1:c.222G>T NP_001166286.1:p.Leu74Phe
NM_173851.2:c.369G>T NP_776250.2:p.Leu123Phe
XM_011516881.1:c.369G>T XP_011515183.1:p.Leu123Phe
XM_011516882.1:c.222G>T XP_011515184.1:p.Leu74Phe
XR_928569.1:n.1020+19574C>A
XR_928570.1:n.1020+19574C>A
NM_001172815.2:c.222G>T NP_001166286.1:p.Leu74Phe
XM_024447083.1:c.222G>T XP_024302851.1:p.Leu74Phe
XR_928569.2:n.973+19574C>A
XR_928570.2:n.973+19574C>A
NM_001172811.2:c.222G>T NP_001166282.1:p.Leu74Phe
NM_001172813.2:c.222G>T NP_001166284.1:p.Leu74Phe
NM_001172814.2:c.222G>T NP_001166285.1:p.Leu74Phe
NM_173851.3:c.369G>T MANE Select NP_776250.2:p.Leu123Phe
NM_001172815.3:c.222G>T NP_001166286.1:p.Leu74Phe