Canonical Allele Identifier: CA380315346
Gene: SLC39A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415290G>T , CM000673.2:g.47415290G>T GRCh38
NC_000011.9:g.47436841G>T , CM000673.1:g.47436841G>T GRCh37
NC_000011.8:g.47393417G>T NCBI36
NG_017073.1:g.11796G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1043G>T MANE Select ENSP00000354689.4:p.Arg348Leu
ENST00000354884.8:c.1022G>T ENSP00000346956.4:p.Arg341Leu
ENST00000362021.8:c.1043G>T ENSP00000354689.4:p.Arg348Leu
ENST00000524886.1:n.301G>T
ENST00000524928.1:c.*1373G>T ENSP00000437186.1:n.*1373G>T
ENST00000527829.1:n.403G>T
ENST00000533076.5:c.*40G>T ENSP00000434290.1:n.*40G>T
NM_001128225.2:c.1043G>T NP_001121697.1:p.Arg348Leu
NM_152264.4:c.1022G>T NP_689477.2:p.Arg341Leu
XM_006718381.2:c.1067G>T XP_006718444.1:p.Arg356Leu
XM_006718383.2:c.959G>T XP_006718446.1:p.Arg320Leu
XM_006718384.2:c.*40G>T XP_006718447.1:n.*40G>T
XM_006718385.2:c.*40G>T XP_006718448.1:n.*40G>T
XM_011520466.1:c.1088G>T XP_011518768.1:p.Arg363Leu
XM_011520467.1:c.1043G>T XP_011518769.1:p.Arg348Leu
XM_011520468.1:c.1043G>T XP_011518770.1:p.Arg348Leu
XM_011520469.1:c.980G>T XP_011518771.1:p.Arg327Leu
XM_011520470.1:c.935G>T XP_011518772.1:p.Arg312Leu
XR_242832.1:n.1428G>T
XR_428862.2:n.1103G>T
XR_428863.2:n.1099G>T
XR_930928.1:n.1124G>T
NM_001330245.1:c.*40G>T NP_001317174.1:n.*40G>T
NR_134854.1:n.1284G>T
XM_006718381.3:c.1067G>T XP_006718444.1:p.Arg356Leu
XM_006718383.3:c.959G>T XP_006718446.1:p.Arg320Leu
XM_011520468.3:c.1043G>T XP_011518770.1:p.Arg348Leu
XM_011520470.2:c.935G>T XP_011518772.1:p.Arg312Leu
XM_017018540.2:c.1022G>T XP_016874029.1:p.Arg341Leu
XM_017018541.2:c.914G>T XP_016874030.1:p.Arg305Leu
XM_024448762.1:c.1172G>T XP_024304530.1:p.Arg391Leu
XR_001748027.1:n.1243G>T
XR_001748028.1:n.1225G>T
XR_428862.3:n.1103G>T
XR_428863.3:n.1099G>T
XR_930928.2:n.1124G>T
NM_001128225.3:c.1043G>T MANE Select NP_001121697.2:p.Arg348Leu
NM_001330245.2:c.*40G>T NP_001317174.2:n.*40G>T
NM_152264.5:c.1022G>T NP_689477.3:p.Arg341Leu