Canonical Allele Identifier: CA380315221

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436700G>T (hg19) ; chr11:g.47415149G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415149G>T , CM000673.2:g.47415149G>T	GRCh38
NC_000011.9:g.47436700G>T , CM000673.1:g.47436700G>T	GRCh37
NC_000011.8:g.47393276G>T	NCBI36
NG_017073.1:g.11655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1030G>T MANE Select	ENSP00000354689.4:p.Glu344Ter
ENST00000354884.8:c.1009G>T	ENSP00000346956.4:p.Glu337Ter
ENST00000362021.8:c.1030G>T	ENSP00000354689.4:p.Glu344Ter
ENST00000524886.1:n.288G>T
ENST00000524928.1:c.*1232G>T	ENSP00000437186.1:n.*1232G>T
ENST00000527829.1:n.262G>T
ENST00000533076.5:c.*27G>T	ENSP00000434290.1:n.*27G>T
NM_001128225.2:c.1030G>T	NP_001121697.1:p.Glu344Ter
NM_152264.4:c.1009G>T	NP_689477.2:p.Glu337Ter
XM_006718381.2:c.1054G>T	XP_006718444.1:p.Glu352Ter
XM_006718383.2:c.946G>T	XP_006718446.1:p.Glu316Ter
XM_006718384.2:c.*27G>T	XP_006718447.1:n.*27G>T
XM_006718385.2:c.*27G>T	XP_006718448.1:n.*27G>T
XM_011520466.1:c.1075G>T	XP_011518768.1:p.Glu359Ter
XM_011520467.1:c.1030G>T	XP_011518769.1:p.Glu344Ter
XM_011520468.1:c.1030G>T	XP_011518770.1:p.Glu344Ter
XM_011520469.1:c.967G>T	XP_011518771.1:p.Glu323Ter
XM_011520470.1:c.922G>T	XP_011518772.1:p.Glu308Ter
XR_242832.1:n.1415G>T
XR_428862.2:n.1090G>T
XR_428863.2:n.1086G>T
XR_930928.1:n.1111G>T
NM_001330245.1:c.*27G>T	NP_001317174.1:n.*27G>T
NR_134854.1:n.1271G>T
XM_006718381.3:c.1054G>T	XP_006718444.1:p.Glu352Ter
XM_006718383.3:c.946G>T	XP_006718446.1:p.Glu316Ter
XM_011520468.3:c.1030G>T	XP_011518770.1:p.Glu344Ter
XM_011520470.2:c.922G>T	XP_011518772.1:p.Glu308Ter
XM_017018540.2:c.1009G>T	XP_016874029.1:p.Glu337Ter
XM_017018541.2:c.901G>T	XP_016874030.1:p.Glu301Ter
XM_024448762.1:c.1159G>T	XP_024304530.1:p.Glu387Ter
XR_001748027.1:n.1230G>T
XR_001748028.1:n.1212G>T
XR_428862.3:n.1090G>T
XR_428863.3:n.1086G>T
XR_930928.2:n.1111G>T
NM_001128225.3:c.1030G>T MANE Select	NP_001121697.2:p.Glu344Ter
NM_001330245.2:c.*27G>T	NP_001317174.2:n.*27G>T
NM_152264.5:c.1009G>T	NP_689477.3:p.Glu337Ter