Canonical Allele Identifier: CA357749846
Gene: SLC39A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102267893C>T , CM000666.2:g.102267893C>T GRCh38
NC_000004.11:g.103189050C>T , CM000666.1:g.103189050C>T GRCh37
NC_000004.10:g.103408073C>T NCBI36
NG_047177.1:g.82606G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.1052G>A ENSP00000394548.3:p.Ter351=
ENST00000682227.1:c.1027G>A ENSP00000508363.1:p.Glu343Lys
ENST00000682243.1:c.*1173G>A ENSP00000507952.1:n.*1173G>A
ENST00000682549.1:c.1052G>A ENSP00000507483.1:p.Ter351=
ENST00000682932.1:c.1027G>A ENSP00000507414.1:p.Glu343Lys
ENST00000683173.1:c.*1148G>A ENSP00000508032.1:n.*1148G>A
ENST00000683221.1:c.1027G>A ENSP00000508093.1:p.Glu343Lys
ENST00000683401.1:n.960G>A
ENST00000683412.1:c.1027G>A ENSP00000507538.1:p.Glu343Lys
ENST00000683462.1:c.1052G>A ENSP00000507170.1:p.Ter351=
ENST00000683634.1:c.*1148G>A ENSP00000507087.1:n.*1148G>A
ENST00000683706.1:c.431G>A ENSP00000506745.1:p.Ter144=
ENST00000683916.1:c.1052G>A ENSP00000508106.1:p.Ter351=
ENST00000684289.1:c.*702G>A ENSP00000506748.1:n.*702G>A
ENST00000684386.1:c.*241G>A ENSP00000507611.1:n.*241G>A
ENST00000356736.5:c.1027G>A MANE Select ENSP00000349174.4:p.Glu343Lys
ENST00000356736.4:c.1027G>A ENSP00000349174.4:p.Glu343Lys
ENST00000394833.6:c.1027G>A ENSP00000378310.2:p.Glu343Lys
ENST00000424970.6:c.1027G>A ENSP00000394548.2:p.Glu343Lys
NM_001135146.1:c.1027G>A NP_001128618.1:p.Glu343Lys
NM_001135147.1:c.1027G>A NP_001128619.1:p.Glu343Lys
NM_001135148.1:c.826G>A NP_001128620.1:p.Glu276Lys
NM_022154.5:c.1027G>A NP_071437.3:p.Glu343Lys
XM_005263177.1:c.1027G>A XP_005263234.1:p.Glu343Lys
XM_011532182.1:c.385G>A XP_011530484.1:p.Glu129Lys
XM_005263177.2:c.1027G>A XP_005263234.1:p.Glu343Lys
XM_017008541.1:c.826G>A XP_016864030.1:p.Glu276Lys
XM_024454184.1:c.1027G>A XP_024309952.1:p.Glu343Lys
NM_001135146.2:c.1027G>A MANE Select NP_001128618.1:p.Glu343Lys
NM_001135148.2:c.826G>A NP_001128620.1:p.Glu276Lys