Canonical Allele Identifier: CA380315193
Gene: SLC39A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415144A>T , CM000673.2:g.47415144A>T GRCh38
NC_000011.9:g.47436695A>T , CM000673.1:g.47436695A>T GRCh37
NC_000011.8:g.47393271A>T NCBI36
NG_017073.1:g.11650A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1025A>T MANE Select ENSP00000354689.4:p.Glu342Val
ENST00000354884.8:c.1004A>T ENSP00000346956.4:p.Glu335Val
ENST00000362021.8:c.1025A>T ENSP00000354689.4:p.Glu342Val
ENST00000524886.1:n.283A>T
ENST00000524928.1:c.*1227A>T ENSP00000437186.1:n.*1227A>T
ENST00000527829.1:n.257A>T
ENST00000533076.5:c.*22A>T ENSP00000434290.1:n.*22A>T
NM_001128225.2:c.1025A>T NP_001121697.1:p.Glu342Val
NM_152264.4:c.1004A>T NP_689477.2:p.Glu335Val
XM_006718381.2:c.1049A>T XP_006718444.1:p.Glu350Val
XM_006718383.2:c.941A>T XP_006718446.1:p.Glu314Val
XM_006718384.2:c.*22A>T XP_006718447.1:n.*22A>T
XM_006718385.2:c.*22A>T XP_006718448.1:n.*22A>T
XM_011520466.1:c.1070A>T XP_011518768.1:p.Glu357Val
XM_011520467.1:c.1025A>T XP_011518769.1:p.Glu342Val
XM_011520468.1:c.1025A>T XP_011518770.1:p.Glu342Val
XM_011520469.1:c.962A>T XP_011518771.1:p.Glu321Val
XM_011520470.1:c.917A>T XP_011518772.1:p.Glu306Val
XR_242832.1:n.1410A>T
XR_428862.2:n.1085A>T
XR_428863.2:n.1081A>T
XR_930928.1:n.1106A>T
NM_001330245.1:c.*22A>T NP_001317174.1:n.*22A>T
NR_134854.1:n.1266A>T
XM_006718381.3:c.1049A>T XP_006718444.1:p.Glu350Val
XM_006718383.3:c.941A>T XP_006718446.1:p.Glu314Val
XM_011520468.3:c.1025A>T XP_011518770.1:p.Glu342Val
XM_011520470.2:c.917A>T XP_011518772.1:p.Glu306Val
XM_017018540.2:c.1004A>T XP_016874029.1:p.Glu335Val
XM_017018541.2:c.896A>T XP_016874030.1:p.Glu299Val
XM_024448762.1:c.1154A>T XP_024304530.1:p.Glu385Val
XR_001748027.1:n.1225A>T
XR_001748028.1:n.1207A>T
XR_428862.3:n.1085A>T
XR_428863.3:n.1081A>T
XR_930928.2:n.1106A>T
NM_001128225.3:c.1025A>T MANE Select NP_001121697.2:p.Glu342Val
NM_001330245.2:c.*22A>T NP_001317174.2:n.*22A>T
NM_152264.5:c.1004A>T NP_689477.3:p.Glu335Val