Canonical Allele Identifier: CA357750007

Gene: SLC39A8

Linked Data

• MyVariant Identifiers: chr4:g.103189129G>C (hg19) ; chr4:g.102267972G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102267972G>C , CM000666.2:g.102267972G>C	GRCh38
NC_000004.11:g.103189129G>C , CM000666.1:g.103189129G>C	GRCh37
NC_000004.10:g.103408152G>C	NCBI36
NG_047177.1:g.82527C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.973C>G	ENSP00000394548.3:p.His325Asp
ENST00000682227.1:c.948C>G	ENSP00000508363.1:p.Phe316Leu
ENST00000682243.1:c.*1094C>G	ENSP00000507952.1:n.*1094C>G
ENST00000682549.1:c.973C>G	ENSP00000507483.1:p.His325Asp
ENST00000682932.1:c.948C>G	ENSP00000507414.1:p.Phe316Leu
ENST00000683173.1:c.*1069C>G	ENSP00000508032.1:n.*1069C>G
ENST00000683221.1:c.948C>G	ENSP00000508093.1:p.Phe316Leu
ENST00000683401.1:n.881C>G
ENST00000683412.1:c.948C>G	ENSP00000507538.1:p.Phe316Leu
ENST00000683462.1:c.973C>G	ENSP00000507170.1:p.His325Asp
ENST00000683634.1:c.*1069C>G	ENSP00000507087.1:n.*1069C>G
ENST00000683706.1:c.352C>G	ENSP00000506745.1:p.His118Asp
ENST00000683916.1:c.973C>G	ENSP00000508106.1:p.His325Asp
ENST00000684289.1:c.*623C>G	ENSP00000506748.1:n.*623C>G
ENST00000684386.1:c.*162C>G	ENSP00000507611.1:n.*162C>G
ENST00000356736.5:c.948C>G MANE Select	ENSP00000349174.4:p.Phe316Leu
ENST00000356736.4:c.948C>G	ENSP00000349174.4:p.Phe316Leu
ENST00000394833.6:c.948C>G	ENSP00000378310.2:p.Phe316Leu
ENST00000424970.6:c.948C>G	ENSP00000394548.2:p.Phe316Leu
NM_001135146.1:c.948C>G	NP_001128618.1:p.Phe316Leu
NM_001135147.1:c.948C>G	NP_001128619.1:p.Phe316Leu
NM_001135148.1:c.747C>G	NP_001128620.1:p.Phe249Leu
NM_022154.5:c.948C>G	NP_071437.3:p.Phe316Leu
XM_005263177.1:c.948C>G	XP_005263234.1:p.Phe316Leu
XM_011532182.1:c.306C>G	XP_011530484.1:p.Phe102Leu
XM_005263177.2:c.948C>G	XP_005263234.1:p.Phe316Leu
XM_017008541.1:c.747C>G	XP_016864030.1:p.Phe249Leu
XM_024454184.1:c.948C>G	XP_024309952.1:p.Phe316Leu
NM_001135146.2:c.948C>G MANE Select	NP_001128618.1:p.Phe316Leu
NM_001135148.2:c.747C>G	NP_001128620.1:p.Phe249Leu