Canonical Allele Identifier: CA440520697
Gene: SLC39A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.103189213T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102268056T>G , CM000666.2:g.102268056T>G GRCh38
NC_000004.11:g.103189213T>G , CM000666.1:g.103189213T>G GRCh37
NC_000004.10:g.103408236T>G NCBI36
NG_047177.1:g.82443A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.889A>C ENSP00000394548.3:p.Met297Leu
ENST00000682227.1:c.864A>C ENSP00000508363.1:p.Ser288=
ENST00000682243.1:c.*1010A>C ENSP00000507952.1:n.*1010A>C
ENST00000682549.1:c.889A>C ENSP00000507483.1:p.Met297Leu
ENST00000682932.1:c.864A>C ENSP00000507414.1:p.Ser288=
ENST00000683173.1:c.*985A>C ENSP00000508032.1:n.*985A>C
ENST00000683221.1:c.864A>C ENSP00000508093.1:p.Ser288=
ENST00000683401.1:n.797A>C
ENST00000683412.1:c.864A>C ENSP00000507538.1:p.Ser288=
ENST00000683462.1:c.889A>C ENSP00000507170.1:p.Met297Leu
ENST00000683634.1:c.*985A>C ENSP00000507087.1:n.*985A>C
ENST00000683706.1:c.268A>C ENSP00000506745.1:p.Met90Leu
ENST00000683916.1:c.889A>C ENSP00000508106.1:p.Met297Leu
ENST00000684289.1:c.*539A>C ENSP00000506748.1:n.*539A>C
ENST00000684386.1:c.*78A>C ENSP00000507611.1:n.*78A>C
ENST00000356736.5:c.864A>C MANE Select ENSP00000349174.4:p.Ser288=
ENST00000356736.4:c.864A>C ENSP00000349174.4:p.Ser288=
ENST00000394833.6:c.864A>C ENSP00000378310.2:p.Ser288=
ENST00000424970.6:c.864A>C ENSP00000394548.2:p.Ser288=
NM_001135146.1:c.864A>C NP_001128618.1:p.Ser288=
NM_001135147.1:c.864A>C NP_001128619.1:p.Ser288=
NM_001135148.1:c.663A>C NP_001128620.1:p.Ser221=
NM_022154.5:c.864A>C NP_071437.3:p.Ser288=
XM_005263177.1:c.864A>C XP_005263234.1:p.Ser288=
XM_011532182.1:c.222A>C XP_011530484.1:p.Ser74=
XM_005263177.2:c.864A>C XP_005263234.1:p.Ser288=
XM_017008541.1:c.663A>C XP_016864030.1:p.Ser221=
XM_024454184.1:c.864A>C XP_024309952.1:p.Ser288=
NM_001135146.2:c.864A>C MANE Select NP_001128618.1:p.Ser288=
NM_001135148.2:c.663A>C NP_001128620.1:p.Ser221=