Canonical Allele Identifier: CA357750113

Gene: SLC39A8

Linked Data

• gnomAD v4: 4-102268019-C-G
• MyVariant Identifiers: chr4:g.103189176C>G (hg19) ; chr4:g.102268019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102268019C>G , CM000666.2:g.102268019C>G	GRCh38
NC_000004.11:g.103189176C>G , CM000666.1:g.103189176C>G	GRCh37
NC_000004.10:g.103408199C>G	NCBI36
NG_047177.1:g.82480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.926G>C	ENSP00000394548.3:p.Arg309Thr
ENST00000682227.1:c.901G>C	ENSP00000508363.1:p.Gly301Arg
ENST00000682243.1:c.*1047G>C	ENSP00000507952.1:n.*1047G>C
ENST00000682549.1:c.926G>C	ENSP00000507483.1:p.Arg309Thr
ENST00000682932.1:c.901G>C	ENSP00000507414.1:p.Gly301Arg
ENST00000683173.1:c.*1022G>C	ENSP00000508032.1:n.*1022G>C
ENST00000683221.1:c.901G>C	ENSP00000508093.1:p.Gly301Arg
ENST00000683401.1:n.834G>C
ENST00000683412.1:c.901G>C	ENSP00000507538.1:p.Gly301Arg
ENST00000683462.1:c.926G>C	ENSP00000507170.1:p.Arg309Thr
ENST00000683634.1:c.*1022G>C	ENSP00000507087.1:n.*1022G>C
ENST00000683706.1:c.305G>C	ENSP00000506745.1:p.Arg102Thr
ENST00000683916.1:c.926G>C	ENSP00000508106.1:p.Arg309Thr
ENST00000684289.1:c.*576G>C	ENSP00000506748.1:n.*576G>C
ENST00000684386.1:c.*115G>C	ENSP00000507611.1:n.*115G>C
ENST00000356736.5:c.901G>C MANE Select	ENSP00000349174.4:p.Gly301Arg
ENST00000356736.4:c.901G>C	ENSP00000349174.4:p.Gly301Arg
ENST00000394833.6:c.901G>C	ENSP00000378310.2:p.Gly301Arg
ENST00000424970.6:c.901G>C	ENSP00000394548.2:p.Gly301Arg
NM_001135146.1:c.901G>C	NP_001128618.1:p.Gly301Arg
NM_001135147.1:c.901G>C	NP_001128619.1:p.Gly301Arg
NM_001135148.1:c.700G>C	NP_001128620.1:p.Gly234Arg
NM_022154.5:c.901G>C	NP_071437.3:p.Gly301Arg
XM_005263177.1:c.901G>C	XP_005263234.1:p.Gly301Arg
XM_011532182.1:c.259G>C	XP_011530484.1:p.Gly87Arg
XM_005263177.2:c.901G>C	XP_005263234.1:p.Gly301Arg
XM_017008541.1:c.700G>C	XP_016864030.1:p.Gly234Arg
XM_024454184.1:c.901G>C	XP_024309952.1:p.Gly301Arg
NM_001135146.2:c.901G>C MANE Select	NP_001128618.1:p.Gly301Arg
NM_001135148.2:c.700G>C	NP_001128620.1:p.Gly234Arg