Canonical Allele Identifier: CA440530840
Gene: SLC39A8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.103226254A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102305097A>G , CM000666.2:g.102305097A>G GRCh38
NC_000004.11:g.103226254A>G , CM000666.1:g.103226254A>G GRCh37
NC_000004.10:g.103445277A>G NCBI36
NG_047177.1:g.45402T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.567T>C ENSP00000394548.3:p.Asp189=
ENST00000682227.1:c.567T>C ENSP00000508363.1:p.Asp189=
ENST00000682243.1:c.*688T>C ENSP00000507952.1:n.*688T>C
ENST00000682549.1:c.567T>C ENSP00000507483.1:p.Asp189=
ENST00000682932.1:c.567T>C ENSP00000507414.1:p.Asp189=
ENST00000683173.1:c.*688T>C ENSP00000508032.1:n.*688T>C
ENST00000683221.1:c.567T>C ENSP00000508093.1:p.Asp189=
ENST00000683401.1:n.500T>C
ENST00000683412.1:c.567T>C ENSP00000507538.1:p.Asp189=
ENST00000683462.1:c.567T>C ENSP00000507170.1:p.Asp189=
ENST00000683634.1:c.*688T>C ENSP00000507087.1:n.*688T>C
ENST00000683706.1:c.220-19124T>C ENSP00000506745.1:n.220-19124T>C
ENST00000683916.1:c.567T>C ENSP00000508106.1:p.Asp189=
ENST00000684289.1:c.*242T>C ENSP00000506748.1:n.*242T>C
ENST00000684386.1:c.567T>C ENSP00000507611.1:p.Asp189=
ENST00000356736.5:c.567T>C MANE Select ENSP00000349174.4:p.Asp189=
ENST00000356736.4:c.567T>C ENSP00000349174.4:p.Asp189=
ENST00000394833.6:c.567T>C ENSP00000378310.2:p.Asp189=
ENST00000424970.6:c.567T>C ENSP00000394548.2:p.Asp189=
ENST00000510255.5:n.495T>C
ENST00000512657.5:n.486T>C
ENST00000514000.5:n.271T>C
NM_001135146.1:c.567T>C NP_001128618.1:p.Asp189=
NM_001135147.1:c.567T>C NP_001128619.1:p.Asp189=
NM_001135148.1:c.366T>C NP_001128620.1:p.Asp122=
NM_022154.5:c.567T>C NP_071437.3:p.Asp189=
XM_005263177.1:c.567T>C XP_005263234.1:p.Asp189=
XM_011532181.1:c.567T>C XP_011530483.1:p.Asp189=
XM_011532182.1:c.-76T>C XP_011530484.1:n.-76T>C
XM_005263177.2:c.567T>C XP_005263234.1:p.Asp189=
XM_017008541.1:c.366T>C XP_016864030.1:p.Asp122=
XM_024454183.1:c.567T>C XP_024309951.1:p.Asp189=
XM_024454184.1:c.567T>C XP_024309952.1:p.Asp189=
NM_001135146.2:c.567T>C MANE Select NP_001128618.1:p.Asp189=
NM_001135148.2:c.366T>C NP_001128620.1:p.Asp122=