Canonical Allele Identifier: CA16604535
Gene: SLC39A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 383789
ClinVar RCV Id: RCV000439449
dbSNP Id: rs1057521727

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102267942G>T , CM000666.2:g.102267942G>T GRCh38
NC_000004.11:g.103189099G>T , CM000666.1:g.103189099G>T GRCh37
NC_000004.10:g.103408122G>T NCBI36
NG_047177.1:g.82557C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000424970.7:c.1003C>A ENSP00000394548.3:p.His335Asn
ENST00000682227.1:c.978C>A ENSP00000508363.1:p.Cys326Ter
ENST00000682243.1:c.*1124C>A ENSP00000507952.1:n.*1124C>A
ENST00000682549.1:c.1003C>A ENSP00000507483.1:p.His335Asn
ENST00000682932.1:c.978C>A ENSP00000507414.1:p.Cys326Ter
ENST00000683173.1:c.*1099C>A ENSP00000508032.1:n.*1099C>A
ENST00000683221.1:c.978C>A ENSP00000508093.1:p.Cys326Ter
ENST00000683401.1:n.911C>A
ENST00000683412.1:c.978C>A ENSP00000507538.1:p.Cys326Ter
ENST00000683462.1:c.1003C>A ENSP00000507170.1:p.His335Asn
ENST00000683634.1:c.*1099C>A ENSP00000507087.1:n.*1099C>A
ENST00000683706.1:c.382C>A ENSP00000506745.1:p.His128Asn
ENST00000683916.1:c.1003C>A ENSP00000508106.1:p.His335Asn
ENST00000684289.1:c.*653C>A ENSP00000506748.1:n.*653C>A
ENST00000684386.1:c.*192C>A ENSP00000507611.1:n.*192C>A
ENST00000356736.5:c.978C>A MANE Select ENSP00000349174.4:p.Cys326Ter
ENST00000356736.4:c.978C>A ENSP00000349174.4:p.Cys326Ter
ENST00000394833.6:c.978C>A ENSP00000378310.2:p.Cys326Ter
ENST00000424970.6:c.978C>A ENSP00000394548.2:p.Cys326Ter
NM_001135146.1:c.978C>A NP_001128618.1:p.Cys326Ter
NM_001135147.1:c.978C>A NP_001128619.1:p.Cys326Ter
NM_001135148.1:c.777C>A NP_001128620.1:p.Cys259Ter
NM_022154.5:c.978C>A NP_071437.3:p.Cys326Ter
XM_005263177.1:c.978C>A XP_005263234.1:p.Cys326Ter
XM_011532182.1:c.336C>A XP_011530484.1:p.Cys112Ter
XM_005263177.2:c.978C>A XP_005263234.1:p.Cys326Ter
XM_017008541.1:c.777C>A XP_016864030.1:p.Cys259Ter
XM_024454184.1:c.978C>A XP_024309952.1:p.Cys326Ter
NM_001135146.2:c.978C>A MANE Select NP_001128618.1:p.Cys326Ter
NM_001135148.2:c.777C>A NP_001128620.1:p.Cys259Ter