Canonical Allele Identifier: CA380315162
Gene: SLC39A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415138T>G , CM000673.2:g.47415138T>G GRCh38
NC_000011.9:g.47436689T>G , CM000673.1:g.47436689T>G GRCh37
NC_000011.8:g.47393265T>G NCBI36
NG_017073.1:g.11644T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1019T>G MANE Select ENSP00000354689.4:p.Leu340Arg
ENST00000354884.8:c.998T>G ENSP00000346956.4:p.Leu333Arg
ENST00000362021.8:c.1019T>G ENSP00000354689.4:p.Leu340Arg
ENST00000524886.1:n.277T>G
ENST00000524928.1:c.*1221T>G ENSP00000437186.1:n.*1221T>G
ENST00000527829.1:n.251T>G
ENST00000533076.5:c.*16T>G ENSP00000434290.1:n.*16T>G
NM_001128225.2:c.1019T>G NP_001121697.1:p.Leu340Arg
NM_152264.4:c.998T>G NP_689477.2:p.Leu333Arg
XM_006718381.2:c.1043T>G XP_006718444.1:p.Leu348Arg
XM_006718383.2:c.935T>G XP_006718446.1:p.Leu312Arg
XM_006718384.2:c.*16T>G XP_006718447.1:n.*16T>G
XM_006718385.2:c.*16T>G XP_006718448.1:n.*16T>G
XM_011520466.1:c.1064T>G XP_011518768.1:p.Leu355Arg
XM_011520467.1:c.1019T>G XP_011518769.1:p.Leu340Arg
XM_011520468.1:c.1019T>G XP_011518770.1:p.Leu340Arg
XM_011520469.1:c.956T>G XP_011518771.1:p.Leu319Arg
XM_011520470.1:c.911T>G XP_011518772.1:p.Leu304Arg
XR_242832.1:n.1404T>G
XR_428862.2:n.1079T>G
XR_428863.2:n.1075T>G
XR_930928.1:n.1100T>G
NM_001330245.1:c.*16T>G NP_001317174.1:n.*16T>G
NR_134854.1:n.1260T>G
XM_006718381.3:c.1043T>G XP_006718444.1:p.Leu348Arg
XM_006718383.3:c.935T>G XP_006718446.1:p.Leu312Arg
XM_011520468.3:c.1019T>G XP_011518770.1:p.Leu340Arg
XM_011520470.2:c.911T>G XP_011518772.1:p.Leu304Arg
XM_017018540.2:c.998T>G XP_016874029.1:p.Leu333Arg
XM_017018541.2:c.890T>G XP_016874030.1:p.Leu297Arg
XM_024448762.1:c.1148T>G XP_024304530.1:p.Leu383Arg
XR_001748027.1:n.1219T>G
XR_001748028.1:n.1201T>G
XR_428862.3:n.1079T>G
XR_428863.3:n.1075T>G
XR_930928.2:n.1100T>G
NM_001128225.3:c.1019T>G MANE Select NP_001121697.2:p.Leu340Arg
NM_001330245.2:c.*16T>G NP_001317174.2:n.*16T>G
NM_152264.5:c.998T>G NP_689477.3:p.Leu333Arg