Canonical Allele Identifier: CA5975687

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 423698
• ClinVar RCV Id: RCV000484431 ; RCV001856879
• dbSNP Id: rs200726045
• ExAC: 11:47431829 G / A
• gnomAD v2: 11-47431829-G-A
• gnomAD v3: 11-47410278-G-A
• gnomAD v4: 11-47410278-G-A
• MyVariant Identifiers: chr11:g.47431829G>A (hg19) ; chr11:g.47410278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47410278G>A , CM000673.2:g.47410278G>A	GRCh38
NC_000011.9:g.47431829G>A , CM000673.1:g.47431829G>A	GRCh37
NC_000011.8:g.47388405G>A	NCBI36
NG_017073.1:g.6784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.184G>A MANE Select	ENSP00000354689.4:p.Gly62Arg
ENST00000354884.8:c.184G>A	ENSP00000346956.4:p.Gly62Arg
ENST00000362021.8:c.184G>A	ENSP00000354689.4:p.Gly62Arg
ENST00000524928.1:c.184G>A	ENSP00000437186.1:p.Gly62Arg
ENST00000526614.5:c.184G>A	ENSP00000432499.1:p.Gly62Arg
ENST00000527091.1:c.184G>A	ENSP00000435076.1:p.Gly62Arg
ENST00000531419.5:c.184G>A	ENSP00000432302.1:p.Gly62Arg
ENST00000531865.5:c.184G>A	ENSP00000434684.1:p.Gly62Arg
ENST00000531974.5:c.184G>A	ENSP00000435845.1:p.Gly62Arg
ENST00000533076.5:c.184G>A	ENSP00000434290.1:p.Gly62Arg
NM_001128225.2:c.184G>A	NP_001121697.1:p.Gly62Arg
NM_152264.4:c.184G>A	NP_689477.2:p.Gly62Arg
XM_006718381.2:c.229G>A	XP_006718444.1:p.Gly77Arg
XM_006718383.2:c.229G>A	XP_006718446.1:p.Gly77Arg
XM_006718384.2:c.229G>A	XP_006718447.1:p.Gly77Arg
XM_006718385.2:c.229G>A	XP_006718448.1:p.Gly77Arg
XM_011520466.1:c.229G>A	XP_011518768.1:p.Gly77Arg
XM_011520467.1:c.184G>A	XP_011518769.1:p.Gly62Arg
XM_011520468.1:c.184G>A	XP_011518770.1:p.Gly62Arg
XM_011520469.1:c.229G>A	XP_011518771.1:p.Gly77Arg
XM_011520470.1:c.184G>A	XP_011518772.1:p.Gly62Arg
XM_011520471.1:c.229G>A	XP_011518773.1:p.Gly77Arg
XM_011520472.1:c.229G>A	XP_011518774.1:p.Gly77Arg
XR_242832.1:n.594G>A
XR_428862.2:n.265G>A
XR_428863.2:n.265G>A
XR_930928.1:n.265G>A
NM_001330245.1:c.184G>A	NP_001317174.1:p.Gly62Arg
NR_134854.1:n.450G>A
XM_006718381.3:c.229G>A	XP_006718444.1:p.Gly77Arg
XM_006718383.3:c.229G>A	XP_006718446.1:p.Gly77Arg
XM_011520468.3:c.184G>A	XP_011518770.1:p.Gly62Arg
XM_011520470.2:c.184G>A	XP_011518772.1:p.Gly62Arg
XM_017018540.2:c.184G>A	XP_016874029.1:p.Gly62Arg
XM_017018541.2:c.184G>A	XP_016874030.1:p.Gly62Arg
XM_024448762.1:c.184G>A	XP_024304530.1:p.Gly62Arg
XR_001748027.1:n.265G>A
XR_001748028.1:n.265G>A
XR_428862.3:n.265G>A
XR_428863.3:n.265G>A
XR_930928.2:n.265G>A
NM_001128225.3:c.184G>A MANE Select	NP_001121697.2:p.Gly62Arg
NM_001330245.2:c.184G>A	NP_001317174.2:p.Gly62Arg
NM_152264.5:c.184G>A	NP_689477.3:p.Gly62Arg