Canonical Allele Identifier: CA380315412
Gene: SLC39A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47415303G>T , CM000673.2:g.47415303G>T GRCh38
NC_000011.9:g.47436854G>T , CM000673.1:g.47436854G>T GRCh37
NC_000011.8:g.47393430G>T NCBI36
NG_017073.1:g.11809G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362021.9:c.1056G>T MANE Select ENSP00000354689.4:p.Gln352His
ENST00000354884.8:c.1035G>T ENSP00000346956.4:p.Gln345His
ENST00000362021.8:c.1056G>T ENSP00000354689.4:p.Gln352His
ENST00000524886.1:n.314G>T
ENST00000524928.1:c.*1386G>T ENSP00000437186.1:n.*1386G>T
ENST00000527829.1:n.416G>T
ENST00000533076.5:c.*53G>T ENSP00000434290.1:n.*53G>T
NM_001128225.2:c.1056G>T NP_001121697.1:p.Gln352His
NM_152264.4:c.1035G>T NP_689477.2:p.Gln345His
XM_006718381.2:c.1080G>T XP_006718444.1:p.Gln360His
XM_006718383.2:c.972G>T XP_006718446.1:p.Gln324His
XM_006718384.2:c.*53G>T XP_006718447.1:n.*53G>T
XM_006718385.2:c.*53G>T XP_006718448.1:n.*53G>T
XM_011520466.1:c.1101G>T XP_011518768.1:p.Gln367His
XM_011520467.1:c.1056G>T XP_011518769.1:p.Gln352His
XM_011520468.1:c.1056G>T XP_011518770.1:p.Gln352His
XM_011520469.1:c.993G>T XP_011518771.1:p.Gln331His
XM_011520470.1:c.948G>T XP_011518772.1:p.Gln316His
XR_242832.1:n.1441G>T
XR_428862.2:n.1116G>T
XR_428863.2:n.1112G>T
XR_930928.1:n.1137G>T
NM_001330245.1:c.*53G>T NP_001317174.1:n.*53G>T
NR_134854.1:n.1297G>T
XM_006718381.3:c.1080G>T XP_006718444.1:p.Gln360His
XM_006718383.3:c.972G>T XP_006718446.1:p.Gln324His
XM_011520468.3:c.1056G>T XP_011518770.1:p.Gln352His
XM_011520470.2:c.948G>T XP_011518772.1:p.Gln316His
XM_017018540.2:c.1035G>T XP_016874029.1:p.Gln345His
XM_017018541.2:c.927G>T XP_016874030.1:p.Gln309His
XM_024448762.1:c.1185G>T XP_024304530.1:p.Gln395His
XR_001748027.1:n.1256G>T
XR_001748028.1:n.1238G>T
XR_428862.3:n.1116G>T
XR_428863.3:n.1112G>T
XR_930928.2:n.1137G>T
NM_001128225.3:c.1056G>T MANE Select NP_001121697.2:p.Gln352His
NM_001330245.2:c.*53G>T NP_001317174.2:n.*53G>T
NM_152264.5:c.1035G>T NP_689477.3:p.Gln345His