Canonical Allele Identifier: CA357753446
Gene: SLC39A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102305072T>A , CM000666.2:g.102305072T>A GRCh38
NC_000004.11:g.103226229T>A , CM000666.1:g.103226229T>A GRCh37
NC_000004.10:g.103445252T>A NCBI36
NG_047177.1:g.45427A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.592A>T ENSP00000394548.3:p.Lys198Ter
ENST00000682227.1:c.592A>T ENSP00000508363.1:p.Lys198Ter
ENST00000682243.1:c.*713A>T ENSP00000507952.1:n.*713A>T
ENST00000682549.1:c.592A>T ENSP00000507483.1:p.Lys198Ter
ENST00000682932.1:c.592A>T ENSP00000507414.1:p.Lys198Ter
ENST00000683173.1:c.*713A>T ENSP00000508032.1:n.*713A>T
ENST00000683221.1:c.592A>T ENSP00000508093.1:p.Lys198Ter
ENST00000683401.1:n.525A>T
ENST00000683412.1:c.592A>T ENSP00000507538.1:p.Lys198Ter
ENST00000683462.1:c.592A>T ENSP00000507170.1:p.Lys198Ter
ENST00000683634.1:c.*713A>T ENSP00000507087.1:n.*713A>T
ENST00000683706.1:c.220-19099A>T ENSP00000506745.1:n.220-19099A>T
ENST00000683916.1:c.592A>T ENSP00000508106.1:p.Lys198Ter
ENST00000684289.1:c.*267A>T ENSP00000506748.1:n.*267A>T
ENST00000684386.1:c.592A>T ENSP00000507611.1:p.Lys198Ter
ENST00000356736.5:c.592A>T MANE Select ENSP00000349174.4:p.Lys198Ter
ENST00000356736.4:c.592A>T ENSP00000349174.4:p.Lys198Ter
ENST00000394833.6:c.592A>T ENSP00000378310.2:p.Lys198Ter
ENST00000424970.6:c.592A>T ENSP00000394548.2:p.Lys198Ter
ENST00000510255.5:n.520A>T
ENST00000512657.5:n.511A>T
ENST00000514000.5:n.296A>T
NM_001135146.1:c.592A>T NP_001128618.1:p.Lys198Ter
NM_001135147.1:c.592A>T NP_001128619.1:p.Lys198Ter
NM_001135148.1:c.391A>T NP_001128620.1:p.Lys131Ter
NM_022154.5:c.592A>T NP_071437.3:p.Lys198Ter
XM_005263177.1:c.592A>T XP_005263234.1:p.Lys198Ter
XM_011532181.1:c.592A>T XP_011530483.1:p.Lys198Ter
XM_011532182.1:c.-51A>T XP_011530484.1:n.-51A>T
XM_005263177.2:c.592A>T XP_005263234.1:p.Lys198Ter
XM_017008541.1:c.391A>T XP_016864030.1:p.Lys131Ter
XM_024454183.1:c.592A>T XP_024309951.1:p.Lys198Ter
XM_024454184.1:c.592A>T XP_024309952.1:p.Lys198Ter
NM_001135146.2:c.592A>T MANE Select NP_001128618.1:p.Lys198Ter
NM_001135148.2:c.391A>T NP_001128620.1:p.Lys131Ter