Canonical Allele Identifier: CA5976051

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 1371385
• ClinVar RCV Id: RCV001878974 ; RCV004040522
• dbSNP Id: rs770908923
• ExAC: 11:47436841 G / A
• gnomAD v2: 11-47436841-G-A
• gnomAD v3: 11-47415290-G-A
• gnomAD v4: 11-47415290-G-A
• COSMIC: COSM3375821 ; COSM3375822
• MyVariant Identifiers: chr11:g.47436841G>A (hg19) ; chr11:g.47415290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415290G>A , CM000673.2:g.47415290G>A	GRCh38
NC_000011.9:g.47436841G>A , CM000673.1:g.47436841G>A	GRCh37
NC_000011.8:g.47393417G>A	NCBI36
NG_017073.1:g.11796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1043G>A MANE Select	ENSP00000354689.4:p.Arg348His
ENST00000354884.8:c.1022G>A	ENSP00000346956.4:p.Arg341His
ENST00000362021.8:c.1043G>A	ENSP00000354689.4:p.Arg348His
ENST00000524886.1:n.301G>A
ENST00000524928.1:c.*1373G>A	ENSP00000437186.1:n.*1373G>A
ENST00000527829.1:n.403G>A
ENST00000533076.5:c.*40G>A	ENSP00000434290.1:n.*40G>A
NM_001128225.2:c.1043G>A	NP_001121697.1:p.Arg348His
NM_152264.4:c.1022G>A	NP_689477.2:p.Arg341His
XM_006718381.2:c.1067G>A	XP_006718444.1:p.Arg356His
XM_006718383.2:c.959G>A	XP_006718446.1:p.Arg320His
XM_006718384.2:c.*40G>A	XP_006718447.1:n.*40G>A
XM_006718385.2:c.*40G>A	XP_006718448.1:n.*40G>A
XM_011520466.1:c.1088G>A	XP_011518768.1:p.Arg363His
XM_011520467.1:c.1043G>A	XP_011518769.1:p.Arg348His
XM_011520468.1:c.1043G>A	XP_011518770.1:p.Arg348His
XM_011520469.1:c.980G>A	XP_011518771.1:p.Arg327His
XM_011520470.1:c.935G>A	XP_011518772.1:p.Arg312His
XR_242832.1:n.1428G>A
XR_428862.2:n.1103G>A
XR_428863.2:n.1099G>A
XR_930928.1:n.1124G>A
NM_001330245.1:c.*40G>A	NP_001317174.1:n.*40G>A
NR_134854.1:n.1284G>A
XM_006718381.3:c.1067G>A	XP_006718444.1:p.Arg356His
XM_006718383.3:c.959G>A	XP_006718446.1:p.Arg320His
XM_011520468.3:c.1043G>A	XP_011518770.1:p.Arg348His
XM_011520470.2:c.935G>A	XP_011518772.1:p.Arg312His
XM_017018540.2:c.1022G>A	XP_016874029.1:p.Arg341His
XM_017018541.2:c.914G>A	XP_016874030.1:p.Arg305His
XM_024448762.1:c.1172G>A	XP_024304530.1:p.Arg391His
XR_001748027.1:n.1243G>A
XR_001748028.1:n.1225G>A
XR_428862.3:n.1103G>A
XR_428863.3:n.1099G>A
XR_930928.2:n.1124G>A
NM_001128225.3:c.1043G>A MANE Select	NP_001121697.2:p.Arg348His
NM_001330245.2:c.*40G>A	NP_001317174.2:n.*40G>A
NM_152264.5:c.1022G>A	NP_689477.3:p.Arg341His