Canonical Allele Identifier: CA3025544

Gene: SLC39A8

Linked Data

• dbSNP Id: rs776814655
• ExAC: 4:103189130 A / C
• gnomAD v2: 4-103189130-A-C
• gnomAD v3: 4-102267973-A-C
• gnomAD v4: 4-102267973-A-C
• MyVariant Identifiers: chr4:g.103189130A>C (hg19) ; chr4:g.102267973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102267973A>C , CM000666.2:g.102267973A>C	GRCh38
NC_000004.11:g.103189130A>C , CM000666.1:g.103189130A>C	GRCh37
NC_000004.10:g.103408153A>C	NCBI36
NG_047177.1:g.82526T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.972T>G	ENSP00000394548.3:p.Phe324Leu
ENST00000682227.1:c.947T>G	ENSP00000508363.1:p.Phe316Cys
ENST00000682243.1:c.*1093T>G	ENSP00000507952.1:n.*1093T>G
ENST00000682549.1:c.972T>G	ENSP00000507483.1:p.Phe324Leu
ENST00000682932.1:c.947T>G	ENSP00000507414.1:p.Phe316Cys
ENST00000683173.1:c.*1068T>G	ENSP00000508032.1:n.*1068T>G
ENST00000683221.1:c.947T>G	ENSP00000508093.1:p.Phe316Cys
ENST00000683401.1:n.880T>G
ENST00000683412.1:c.947T>G	ENSP00000507538.1:p.Phe316Cys
ENST00000683462.1:c.972T>G	ENSP00000507170.1:p.Phe324Leu
ENST00000683634.1:c.*1068T>G	ENSP00000507087.1:n.*1068T>G
ENST00000683706.1:c.351T>G	ENSP00000506745.1:p.Phe117Leu
ENST00000683916.1:c.972T>G	ENSP00000508106.1:p.Phe324Leu
ENST00000684289.1:c.*622T>G	ENSP00000506748.1:n.*622T>G
ENST00000684386.1:c.*161T>G	ENSP00000507611.1:n.*161T>G
ENST00000356736.5:c.947T>G MANE Select	ENSP00000349174.4:p.Phe316Cys
ENST00000356736.4:c.947T>G	ENSP00000349174.4:p.Phe316Cys
ENST00000394833.6:c.947T>G	ENSP00000378310.2:p.Phe316Cys
ENST00000424970.6:c.947T>G	ENSP00000394548.2:p.Phe316Cys
NM_001135146.1:c.947T>G	NP_001128618.1:p.Phe316Cys
NM_001135147.1:c.947T>G	NP_001128619.1:p.Phe316Cys
NM_001135148.1:c.746T>G	NP_001128620.1:p.Phe249Cys
NM_022154.5:c.947T>G	NP_071437.3:p.Phe316Cys
XM_005263177.1:c.947T>G	XP_005263234.1:p.Phe316Cys
XM_011532182.1:c.305T>G	XP_011530484.1:p.Phe102Cys
XM_005263177.2:c.947T>G	XP_005263234.1:p.Phe316Cys
XM_017008541.1:c.746T>G	XP_016864030.1:p.Phe249Cys
XM_024454184.1:c.947T>G	XP_024309952.1:p.Phe316Cys
NM_001135146.2:c.947T>G MANE Select	NP_001128618.1:p.Phe316Cys
NM_001135148.2:c.746T>G	NP_001128620.1:p.Phe249Cys