Canonical Allele Identifier: CA440520720
Gene: SLC39A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.103189219T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102268062T>C , CM000666.2:g.102268062T>C GRCh38
NC_000004.11:g.103189219T>C , CM000666.1:g.103189219T>C GRCh37
NC_000004.10:g.103408242T>C NCBI36
NG_047177.1:g.82437A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.883A>G ENSP00000394548.3:p.Lys295Glu
ENST00000682227.1:c.858A>G ENSP00000508363.1:p.Pro286=
ENST00000682243.1:c.*1004A>G ENSP00000507952.1:n.*1004A>G
ENST00000682549.1:c.883A>G ENSP00000507483.1:p.Lys295Glu
ENST00000682932.1:c.858A>G ENSP00000507414.1:p.Pro286=
ENST00000683173.1:c.*979A>G ENSP00000508032.1:n.*979A>G
ENST00000683221.1:c.858A>G ENSP00000508093.1:p.Pro286=
ENST00000683401.1:n.791A>G
ENST00000683412.1:c.858A>G ENSP00000507538.1:p.Pro286=
ENST00000683462.1:c.883A>G ENSP00000507170.1:p.Lys295Glu
ENST00000683634.1:c.*979A>G ENSP00000507087.1:n.*979A>G
ENST00000683706.1:c.262A>G ENSP00000506745.1:p.Lys88Glu
ENST00000683916.1:c.883A>G ENSP00000508106.1:p.Lys295Glu
ENST00000684289.1:c.*533A>G ENSP00000506748.1:n.*533A>G
ENST00000684386.1:c.*72A>G ENSP00000507611.1:n.*72A>G
ENST00000356736.5:c.858A>G MANE Select ENSP00000349174.4:p.Pro286=
ENST00000356736.4:c.858A>G ENSP00000349174.4:p.Pro286=
ENST00000394833.6:c.858A>G ENSP00000378310.2:p.Pro286=
ENST00000424970.6:c.858A>G ENSP00000394548.2:p.Pro286=
NM_001135146.1:c.858A>G NP_001128618.1:p.Pro286=
NM_001135147.1:c.858A>G NP_001128619.1:p.Pro286=
NM_001135148.1:c.657A>G NP_001128620.1:p.Pro219=
NM_022154.5:c.858A>G NP_071437.3:p.Pro286=
XM_005263177.1:c.858A>G XP_005263234.1:p.Pro286=
XM_011532182.1:c.216A>G XP_011530484.1:p.Pro72=
XM_005263177.2:c.858A>G XP_005263234.1:p.Pro286=
XM_017008541.1:c.657A>G XP_016864030.1:p.Pro219=
XM_024454184.1:c.858A>G XP_024309952.1:p.Pro286=
NM_001135146.2:c.858A>G MANE Select NP_001128618.1:p.Pro286=
NM_001135148.2:c.657A>G NP_001128620.1:p.Pro219=