Canonical Allele Identifier: CA357750162
Gene: SLC39A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102268042T>C , CM000666.2:g.102268042T>C GRCh38
NC_000004.11:g.103189199T>C , CM000666.1:g.103189199T>C GRCh37
NC_000004.10:g.103408222T>C NCBI36
NG_047177.1:g.82457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.903A>G ENSP00000394548.3:p.Glu301=
ENST00000682227.1:c.878A>G ENSP00000508363.1:p.Lys293Arg
ENST00000682243.1:c.*1024A>G ENSP00000507952.1:n.*1024A>G
ENST00000682549.1:c.903A>G ENSP00000507483.1:p.Glu301=
ENST00000682932.1:c.878A>G ENSP00000507414.1:p.Lys293Arg
ENST00000683173.1:c.*999A>G ENSP00000508032.1:n.*999A>G
ENST00000683221.1:c.878A>G ENSP00000508093.1:p.Lys293Arg
ENST00000683401.1:n.811A>G
ENST00000683412.1:c.878A>G ENSP00000507538.1:p.Lys293Arg
ENST00000683462.1:c.903A>G ENSP00000507170.1:p.Glu301=
ENST00000683634.1:c.*999A>G ENSP00000507087.1:n.*999A>G
ENST00000683706.1:c.282A>G ENSP00000506745.1:p.Glu94=
ENST00000683916.1:c.903A>G ENSP00000508106.1:p.Glu301=
ENST00000684289.1:c.*553A>G ENSP00000506748.1:n.*553A>G
ENST00000684386.1:c.*92A>G ENSP00000507611.1:n.*92A>G
ENST00000356736.5:c.878A>G MANE Select ENSP00000349174.4:p.Lys293Arg
ENST00000356736.4:c.878A>G ENSP00000349174.4:p.Lys293Arg
ENST00000394833.6:c.878A>G ENSP00000378310.2:p.Lys293Arg
ENST00000424970.6:c.878A>G ENSP00000394548.2:p.Lys293Arg
NM_001135146.1:c.878A>G NP_001128618.1:p.Lys293Arg
NM_001135147.1:c.878A>G NP_001128619.1:p.Lys293Arg
NM_001135148.1:c.677A>G NP_001128620.1:p.Lys226Arg
NM_022154.5:c.878A>G NP_071437.3:p.Lys293Arg
XM_005263177.1:c.878A>G XP_005263234.1:p.Lys293Arg
XM_011532182.1:c.236A>G XP_011530484.1:p.Lys79Arg
XM_005263177.2:c.878A>G XP_005263234.1:p.Lys293Arg
XM_017008541.1:c.677A>G XP_016864030.1:p.Lys226Arg
XM_024454184.1:c.878A>G XP_024309952.1:p.Lys293Arg
NM_001135146.2:c.878A>G MANE Select NP_001128618.1:p.Lys293Arg
NM_001135148.2:c.677A>G NP_001128620.1:p.Lys226Arg