Canonical Allele Identifier: CA3025556
Gene: SLC39A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486256
ClinVar RCV Id: RCV002003464
dbSNP Id: rs748870391

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102268079C>T , CM000666.2:g.102268079C>T GRCh38
NC_000004.11:g.103189236C>T , CM000666.1:g.103189236C>T GRCh37
NC_000004.10:g.103408259C>T NCBI36
NG_047177.1:g.82420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.866G>A ENSP00000394548.3:p.Gly289Glu
ENST00000682227.1:c.841G>A ENSP00000508363.1:p.Asp281Asn
ENST00000682243.1:c.*987G>A ENSP00000507952.1:n.*987G>A
ENST00000682549.1:c.866G>A ENSP00000507483.1:p.Gly289Glu
ENST00000682932.1:c.841G>A ENSP00000507414.1:p.Asp281Asn
ENST00000683173.1:c.*962G>A ENSP00000508032.1:n.*962G>A
ENST00000683221.1:c.841G>A ENSP00000508093.1:p.Asp281Asn
ENST00000683401.1:n.774G>A
ENST00000683412.1:c.841G>A ENSP00000507538.1:p.Asp281Asn
ENST00000683462.1:c.866G>A ENSP00000507170.1:p.Gly289Glu
ENST00000683634.1:c.*962G>A ENSP00000507087.1:n.*962G>A
ENST00000683706.1:c.245G>A ENSP00000506745.1:p.Gly82Glu
ENST00000683916.1:c.866G>A ENSP00000508106.1:p.Gly289Glu
ENST00000684289.1:c.*516G>A ENSP00000506748.1:n.*516G>A
ENST00000684386.1:c.*55G>A ENSP00000507611.1:n.*55G>A
ENST00000356736.5:c.841G>A MANE Select ENSP00000349174.4:p.Asp281Asn
ENST00000356736.4:c.841G>A ENSP00000349174.4:p.Asp281Asn
ENST00000394833.6:c.841G>A ENSP00000378310.2:p.Asp281Asn
ENST00000424970.6:c.841G>A ENSP00000394548.2:p.Asp281Asn
NM_001135146.1:c.841G>A NP_001128618.1:p.Asp281Asn
NM_001135147.1:c.841G>A NP_001128619.1:p.Asp281Asn
NM_001135148.1:c.640G>A NP_001128620.1:p.Asp214Asn
NM_022154.5:c.841G>A NP_071437.3:p.Asp281Asn
XM_005263177.1:c.841G>A XP_005263234.1:p.Asp281Asn
XM_011532182.1:c.199G>A XP_011530484.1:p.Asp67Asn
XM_005263177.2:c.841G>A XP_005263234.1:p.Asp281Asn
XM_017008541.1:c.640G>A XP_016864030.1:p.Asp214Asn
XM_024454184.1:c.841G>A XP_024309952.1:p.Asp281Asn
NM_001135146.2:c.841G>A MANE Select NP_001128618.1:p.Asp281Asn
NM_001135148.2:c.640G>A NP_001128620.1:p.Asp214Asn