Canonical Allele Identifier: CA380315341
Gene: SLC39A13 HGNC NCBI

Linked Data

dbSNP Id: rs1565669078

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415289C>T , CM000673.2:g.47415289C>T GRCh38
NC_000011.9:g.47436840C>T , CM000673.1:g.47436840C>T GRCh37
NC_000011.8:g.47393416C>T NCBI36
NG_017073.1:g.11795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1042C>T MANE Select ENSP00000354689.4:p.Arg348Cys
ENST00000354884.8:c.1021C>T ENSP00000346956.4:p.Arg341Cys
ENST00000362021.8:c.1042C>T ENSP00000354689.4:p.Arg348Cys
ENST00000524886.1:n.300C>T
ENST00000524928.1:c.*1372C>T ENSP00000437186.1:n.*1372C>T
ENST00000527829.1:n.402C>T
ENST00000533076.5:c.*39C>T ENSP00000434290.1:n.*39C>T
NM_001128225.2:c.1042C>T NP_001121697.1:p.Arg348Cys
NM_152264.4:c.1021C>T NP_689477.2:p.Arg341Cys
XM_006718381.2:c.1066C>T XP_006718444.1:p.Arg356Cys
XM_006718383.2:c.958C>T XP_006718446.1:p.Arg320Cys
XM_006718384.2:c.*39C>T XP_006718447.1:n.*39C>T
XM_006718385.2:c.*39C>T XP_006718448.1:n.*39C>T
XM_011520466.1:c.1087C>T XP_011518768.1:p.Arg363Cys
XM_011520467.1:c.1042C>T XP_011518769.1:p.Arg348Cys
XM_011520468.1:c.1042C>T XP_011518770.1:p.Arg348Cys
XM_011520469.1:c.979C>T XP_011518771.1:p.Arg327Cys
XM_011520470.1:c.934C>T XP_011518772.1:p.Arg312Cys
XR_242832.1:n.1427C>T
XR_428862.2:n.1102C>T
XR_428863.2:n.1098C>T
XR_930928.1:n.1123C>T
NM_001330245.1:c.*39C>T NP_001317174.1:n.*39C>T
NR_134854.1:n.1283C>T
XM_006718381.3:c.1066C>T XP_006718444.1:p.Arg356Cys
XM_006718383.3:c.958C>T XP_006718446.1:p.Arg320Cys
XM_011520468.3:c.1042C>T XP_011518770.1:p.Arg348Cys
XM_011520470.2:c.934C>T XP_011518772.1:p.Arg312Cys
XM_017018540.2:c.1021C>T XP_016874029.1:p.Arg341Cys
XM_017018541.2:c.913C>T XP_016874030.1:p.Arg305Cys
XM_024448762.1:c.1171C>T XP_024304530.1:p.Arg391Cys
XR_001748027.1:n.1242C>T
XR_001748028.1:n.1224C>T
XR_428862.3:n.1102C>T
XR_428863.3:n.1098C>T
XR_930928.2:n.1123C>T
NM_001128225.3:c.1042C>T MANE Select NP_001121697.2:p.Arg348Cys
NM_001330245.2:c.*39C>T NP_001317174.2:n.*39C>T
NM_152264.5:c.1021C>T NP_689477.3:p.Arg341Cys