Canonical Allele Identifier: CA380315332

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436839G>T (hg19) ; chr11:g.47415288G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415288G>T , CM000673.2:g.47415288G>T	GRCh38
NC_000011.9:g.47436839G>T , CM000673.1:g.47436839G>T	GRCh37
NC_000011.8:g.47393415G>T	NCBI36
NG_017073.1:g.11794G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1041G>T MANE Select	ENSP00000354689.4:p.Trp347Cys
ENST00000354884.8:c.1020G>T	ENSP00000346956.4:p.Trp340Cys
ENST00000362021.8:c.1041G>T	ENSP00000354689.4:p.Trp347Cys
ENST00000524886.1:n.299G>T
ENST00000524928.1:c.*1371G>T	ENSP00000437186.1:n.*1371G>T
ENST00000527829.1:n.401G>T
ENST00000533076.5:c.*38G>T	ENSP00000434290.1:n.*38G>T
NM_001128225.2:c.1041G>T	NP_001121697.1:p.Trp347Cys
NM_152264.4:c.1020G>T	NP_689477.2:p.Trp340Cys
XM_006718381.2:c.1065G>T	XP_006718444.1:p.Trp355Cys
XM_006718383.2:c.957G>T	XP_006718446.1:p.Trp319Cys
XM_006718384.2:c.*38G>T	XP_006718447.1:n.*38G>T
XM_006718385.2:c.*38G>T	XP_006718448.1:n.*38G>T
XM_011520466.1:c.1086G>T	XP_011518768.1:p.Trp362Cys
XM_011520467.1:c.1041G>T	XP_011518769.1:p.Trp347Cys
XM_011520468.1:c.1041G>T	XP_011518770.1:p.Trp347Cys
XM_011520469.1:c.978G>T	XP_011518771.1:p.Trp326Cys
XM_011520470.1:c.933G>T	XP_011518772.1:p.Trp311Cys
XR_242832.1:n.1426G>T
XR_428862.2:n.1101G>T
XR_428863.2:n.1097G>T
XR_930928.1:n.1122G>T
NM_001330245.1:c.*38G>T	NP_001317174.1:n.*38G>T
NR_134854.1:n.1282G>T
XM_006718381.3:c.1065G>T	XP_006718444.1:p.Trp355Cys
XM_006718383.3:c.957G>T	XP_006718446.1:p.Trp319Cys
XM_011520468.3:c.1041G>T	XP_011518770.1:p.Trp347Cys
XM_011520470.2:c.933G>T	XP_011518772.1:p.Trp311Cys
XM_017018540.2:c.1020G>T	XP_016874029.1:p.Trp340Cys
XM_017018541.2:c.912G>T	XP_016874030.1:p.Trp304Cys
XM_024448762.1:c.1170G>T	XP_024304530.1:p.Trp390Cys
XR_001748027.1:n.1241G>T
XR_001748028.1:n.1223G>T
XR_428862.3:n.1101G>T
XR_428863.3:n.1097G>T
XR_930928.2:n.1122G>T
NM_001128225.3:c.1041G>T MANE Select	NP_001121697.2:p.Trp347Cys
NM_001330245.2:c.*38G>T	NP_001317174.2:n.*38G>T
NM_152264.5:c.1020G>T	NP_689477.3:p.Trp340Cys