Canonical Allele Identifier: CA380315493

Gene: SLC39A13

Linked Data

• dbSNP Id: rs1395091410
• gnomAD v2: 11-47436873-G-A
• gnomAD v4: 11-47415322-G-A
• MyVariant Identifiers: chr11:g.47436873G>A (hg19) ; chr11:g.47415322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415322G>A , CM000673.2:g.47415322G>A	GRCh38
NC_000011.9:g.47436873G>A , CM000673.1:g.47436873G>A	GRCh37
NC_000011.8:g.47393449G>A	NCBI36
NG_017073.1:g.11828G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362021.9:c.1075G>A MANE Select	ENSP00000354689.4:p.Gly359Ser
ENST00000354884.8:c.1054G>A	ENSP00000346956.4:p.Gly352Ser
ENST00000362021.8:c.1075G>A	ENSP00000354689.4:p.Gly359Ser
ENST00000524886.1:n.333G>A
ENST00000524928.1:c.*1405G>A	ENSP00000437186.1:n.*1405G>A
ENST00000527829.1:n.435G>A
ENST00000533076.5:c.*72G>A	ENSP00000434290.1:n.*72G>A
NM_001128225.2:c.1075G>A	NP_001121697.1:p.Gly359Ser
NM_152264.4:c.1054G>A	NP_689477.2:p.Gly352Ser
XM_006718381.2:c.1099G>A	XP_006718444.1:p.Gly367Ser
XM_006718383.2:c.991G>A	XP_006718446.1:p.Gly331Ser
XM_006718384.2:c.*72G>A	XP_006718447.1:n.*72G>A
XM_006718385.2:c.*72G>A	XP_006718448.1:n.*72G>A
XM_011520466.1:c.1120G>A	XP_011518768.1:p.Gly374Ser
XM_011520467.1:c.1075G>A	XP_011518769.1:p.Gly359Ser
XM_011520468.1:c.1075G>A	XP_011518770.1:p.Gly359Ser
XM_011520469.1:c.1012G>A	XP_011518771.1:p.Gly338Ser
XM_011520470.1:c.967G>A	XP_011518772.1:p.Gly323Ser
XR_242832.1:n.1460G>A
XR_428862.2:n.1135G>A
XR_428863.2:n.1131G>A
XR_930928.1:n.1156G>A
NM_001330245.1:c.*72G>A	NP_001317174.1:n.*72G>A
NR_134854.1:n.1316G>A
XM_006718381.3:c.1099G>A	XP_006718444.1:p.Gly367Ser
XM_006718383.3:c.991G>A	XP_006718446.1:p.Gly331Ser
XM_011520468.3:c.1075G>A	XP_011518770.1:p.Gly359Ser
XM_011520470.2:c.967G>A	XP_011518772.1:p.Gly323Ser
XM_017018540.2:c.1054G>A	XP_016874029.1:p.Gly352Ser
XM_017018541.2:c.946G>A	XP_016874030.1:p.Gly316Ser
XM_024448762.1:c.1204G>A	XP_024304530.1:p.Gly402Ser
XR_001748027.1:n.1275G>A
XR_001748028.1:n.1257G>A
XR_428862.3:n.1135G>A
XR_428863.3:n.1131G>A
XR_930928.2:n.1156G>A
NM_001128225.3:c.1075G>A MANE Select	NP_001121697.2:p.Gly359Ser
NM_001330245.2:c.*72G>A	NP_001317174.2:n.*72G>A
NM_152264.5:c.1054G>A	NP_689477.3:p.Gly352Ser