Canonical Allele Identifier: CA2574816745
Gene: SLC39A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415205T>C , CM000673.2:g.47415205T>C GRCh38
NC_000011.9:g.47436756T>C , CM000673.1:g.47436756T>C GRCh37
NC_000011.8:g.47393332T>C NCBI36
NG_017073.1:g.11711T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1040+46T>C MANE Select ENSP00000354689.4:n.1040+46T>C
ENST00000354884.8:c.1019+46T>C ENSP00000346956.4:n.1019+46T>C
ENST00000362021.8:c.1040+46T>C ENSP00000354689.4:n.1040+46T>C
ENST00000524886.1:n.298+46T>C
ENST00000524928.1:c.*1288T>C ENSP00000437186.1:n.*1288T>C
ENST00000527829.1:n.318T>C
ENST00000533076.5:c.*37+46T>C ENSP00000434290.1:n.*37+46T>C
NM_001128225.2:c.1040+46T>C NP_001121697.1:n.1040+46T>C
NM_152264.4:c.1019+46T>C NP_689477.2:n.1019+46T>C
XM_006718381.2:c.1064+46T>C XP_006718444.1:n.1064+46T>C
XM_006718383.2:c.956+46T>C XP_006718446.1:n.956+46T>C
XM_006718384.2:c.*37+46T>C XP_006718447.1:n.*37+46T>C
XM_006718385.2:c.*37+46T>C XP_006718448.1:n.*37+46T>C
XM_011520466.1:c.1085+46T>C XP_011518768.1:n.1085+46T>C
XM_011520467.1:c.1040+46T>C XP_011518769.1:n.1040+46T>C
XM_011520468.1:c.1040+46T>C XP_011518770.1:n.1040+46T>C
XM_011520469.1:c.977+46T>C XP_011518771.1:n.977+46T>C
XM_011520470.1:c.932+46T>C XP_011518772.1:n.932+46T>C
XR_242832.1:n.1425+46T>C
XR_428862.2:n.1100+46T>C
XR_428863.2:n.1096+46T>C
XR_930928.1:n.1121+46T>C
NM_001330245.1:c.*37+46T>C NP_001317174.1:n.*37+46T>C
NR_134854.1:n.1281+46T>C
XM_006718381.3:c.1064+46T>C XP_006718444.1:n.1064+46T>C
XM_006718383.3:c.956+46T>C XP_006718446.1:n.956+46T>C
XM_011520468.3:c.1040+46T>C XP_011518770.1:n.1040+46T>C
XM_011520470.2:c.932+46T>C XP_011518772.1:n.932+46T>C
XM_017018540.2:c.1019+46T>C XP_016874029.1:n.1019+46T>C
XM_017018541.2:c.911+46T>C XP_016874030.1:n.911+46T>C
XM_024448762.1:c.1169+46T>C XP_024304530.1:n.1169+46T>C
XR_001748027.1:n.1240+46T>C
XR_001748028.1:n.1222+46T>C
XR_428862.3:n.1100+46T>C
XR_428863.3:n.1096+46T>C
XR_930928.2:n.1121+46T>C
NM_001128225.3:c.1040+46T>C MANE Select NP_001121697.2:n.1040+46T>C
NM_001330245.2:c.*37+46T>C NP_001317174.2:n.*37+46T>C
NM_152264.5:c.1019+46T>C NP_689477.3:n.1019+46T>C