Canonical Allele Identifier: CA380315442
Gene: SLC39A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415311T>A , CM000673.2:g.47415311T>A GRCh38
NC_000011.9:g.47436862T>A , CM000673.1:g.47436862T>A GRCh37
NC_000011.8:g.47393438T>A NCBI36
NG_017073.1:g.11817T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1064T>A MANE Select ENSP00000354689.4:p.Leu355Gln
ENST00000354884.8:c.1043T>A ENSP00000346956.4:p.Leu348Gln
ENST00000362021.8:c.1064T>A ENSP00000354689.4:p.Leu355Gln
ENST00000524886.1:n.322T>A
ENST00000524928.1:c.*1394T>A ENSP00000437186.1:n.*1394T>A
ENST00000527829.1:n.424T>A
ENST00000533076.5:c.*61T>A ENSP00000434290.1:n.*61T>A
NM_001128225.2:c.1064T>A NP_001121697.1:p.Leu355Gln
NM_152264.4:c.1043T>A NP_689477.2:p.Leu348Gln
XM_006718381.2:c.1088T>A XP_006718444.1:p.Leu363Gln
XM_006718383.2:c.980T>A XP_006718446.1:p.Leu327Gln
XM_006718384.2:c.*61T>A XP_006718447.1:n.*61T>A
XM_006718385.2:c.*61T>A XP_006718448.1:n.*61T>A
XM_011520466.1:c.1109T>A XP_011518768.1:p.Leu370Gln
XM_011520467.1:c.1064T>A XP_011518769.1:p.Leu355Gln
XM_011520468.1:c.1064T>A XP_011518770.1:p.Leu355Gln
XM_011520469.1:c.1001T>A XP_011518771.1:p.Leu334Gln
XM_011520470.1:c.956T>A XP_011518772.1:p.Leu319Gln
XR_242832.1:n.1449T>A
XR_428862.2:n.1124T>A
XR_428863.2:n.1120T>A
XR_930928.1:n.1145T>A
NM_001330245.1:c.*61T>A NP_001317174.1:n.*61T>A
NR_134854.1:n.1305T>A
XM_006718381.3:c.1088T>A XP_006718444.1:p.Leu363Gln
XM_006718383.3:c.980T>A XP_006718446.1:p.Leu327Gln
XM_011520468.3:c.1064T>A XP_011518770.1:p.Leu355Gln
XM_011520470.2:c.956T>A XP_011518772.1:p.Leu319Gln
XM_017018540.2:c.1043T>A XP_016874029.1:p.Leu348Gln
XM_017018541.2:c.935T>A XP_016874030.1:p.Leu312Gln
XM_024448762.1:c.1193T>A XP_024304530.1:p.Leu398Gln
XR_001748027.1:n.1264T>A
XR_001748028.1:n.1246T>A
XR_428862.3:n.1124T>A
XR_428863.3:n.1120T>A
XR_930928.2:n.1145T>A
NM_001128225.3:c.1064T>A MANE Select NP_001121697.2:p.Leu355Gln
NM_001330245.2:c.*61T>A NP_001317174.2:n.*61T>A
NM_152264.5:c.1043T>A NP_689477.3:p.Leu348Gln