Canonical Allele Identifier: CA474210472

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 1507081
• ClinVar RCV Id: RCV002011268
• dbSNP Id: rs1163501092
• MyVariant Identifiers: chr11:g.47436875C>T (hg19) ; chr11:g.47415324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415324C>T , CM000673.2:g.47415324C>T	GRCh38
NC_000011.9:g.47436875C>T , CM000673.1:g.47436875C>T	GRCh37
NC_000011.8:g.47393451C>T	NCBI36
NG_017073.1:g.11830C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362021.9:c.1077C>T MANE Select	ENSP00000354689.4:p.Gly359=
ENST00000354884.8:c.1056C>T	ENSP00000346956.4:p.Gly352=
ENST00000362021.8:c.1077C>T	ENSP00000354689.4:p.Gly359=
ENST00000524886.1:n.335C>T
ENST00000524928.1:c.*1407C>T	ENSP00000437186.1:n.*1407C>T
ENST00000527829.1:n.437C>T
ENST00000533076.5:c.*74C>T	ENSP00000434290.1:n.*74C>T
NM_001128225.2:c.1077C>T	NP_001121697.1:p.Gly359=
NM_152264.4:c.1056C>T	NP_689477.2:p.Gly352=
XM_006718381.2:c.1101C>T	XP_006718444.1:p.Gly367=
XM_006718383.2:c.993C>T	XP_006718446.1:p.Gly331=
XM_006718384.2:c.*74C>T	XP_006718447.1:n.*74C>T
XM_006718385.2:c.*74C>T	XP_006718448.1:n.*74C>T
XM_011520466.1:c.1122C>T	XP_011518768.1:p.Gly374=
XM_011520467.1:c.1077C>T	XP_011518769.1:p.Gly359=
XM_011520468.1:c.1077C>T	XP_011518770.1:p.Gly359=
XM_011520469.1:c.1014C>T	XP_011518771.1:p.Gly338=
XM_011520470.1:c.969C>T	XP_011518772.1:p.Gly323=
XR_242832.1:n.1462C>T
XR_428862.2:n.1137C>T
XR_428863.2:n.1133C>T
XR_930928.1:n.1158C>T
NM_001330245.1:c.*74C>T	NP_001317174.1:n.*74C>T
NR_134854.1:n.1318C>T
XM_006718381.3:c.1101C>T	XP_006718444.1:p.Gly367=
XM_006718383.3:c.993C>T	XP_006718446.1:p.Gly331=
XM_011520468.3:c.1077C>T	XP_011518770.1:p.Gly359=
XM_011520470.2:c.969C>T	XP_011518772.1:p.Gly323=
XM_017018540.2:c.1056C>T	XP_016874029.1:p.Gly352=
XM_017018541.2:c.948C>T	XP_016874030.1:p.Gly316=
XM_024448762.1:c.1206C>T	XP_024304530.1:p.Gly402=
XR_001748027.1:n.1277C>T
XR_001748028.1:n.1259C>T
XR_428862.3:n.1137C>T
XR_428863.3:n.1133C>T
XR_930928.2:n.1158C>T
NM_001128225.3:c.1077C>T MANE Select	NP_001121697.2:p.Gly359=
NM_001330245.2:c.*74C>T	NP_001317174.2:n.*74C>T
NM_152264.5:c.1056C>T	NP_689477.3:p.Gly352=