Canonical Allele Identifier: CA357749863
Gene: SLC39A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102267902T>A , CM000666.2:g.102267902T>A GRCh38
NC_000004.11:g.103189059T>A , CM000666.1:g.103189059T>A GRCh37
NC_000004.10:g.103408082T>A NCBI36
NG_047177.1:g.82597A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424970.7:c.1043A>T ENSP00000394548.3:p.Asn348Ile
ENST00000682227.1:c.1018A>T ENSP00000508363.1:p.Ile340Phe
ENST00000682243.1:c.*1164A>T ENSP00000507952.1:n.*1164A>T
ENST00000682549.1:c.1043A>T ENSP00000507483.1:p.Asn348Ile
ENST00000682932.1:c.1018A>T ENSP00000507414.1:p.Ile340Phe
ENST00000683173.1:c.*1139A>T ENSP00000508032.1:n.*1139A>T
ENST00000683221.1:c.1018A>T ENSP00000508093.1:p.Ile340Phe
ENST00000683401.1:n.951A>T
ENST00000683412.1:c.1018A>T ENSP00000507538.1:p.Ile340Phe
ENST00000683462.1:c.1043A>T ENSP00000507170.1:p.Asn348Ile
ENST00000683634.1:c.*1139A>T ENSP00000507087.1:n.*1139A>T
ENST00000683706.1:c.422A>T ENSP00000506745.1:p.Asn141Ile
ENST00000683916.1:c.1043A>T ENSP00000508106.1:p.Asn348Ile
ENST00000684289.1:c.*693A>T ENSP00000506748.1:n.*693A>T
ENST00000684386.1:c.*232A>T ENSP00000507611.1:n.*232A>T
ENST00000356736.5:c.1018A>T MANE Select ENSP00000349174.4:p.Ile340Phe
ENST00000356736.4:c.1018A>T ENSP00000349174.4:p.Ile340Phe
ENST00000394833.6:c.1018A>T ENSP00000378310.2:p.Ile340Phe
ENST00000424970.6:c.1018A>T ENSP00000394548.2:p.Ile340Phe
NM_001135146.1:c.1018A>T NP_001128618.1:p.Ile340Phe
NM_001135147.1:c.1018A>T NP_001128619.1:p.Ile340Phe
NM_001135148.1:c.817A>T NP_001128620.1:p.Ile273Phe
NM_022154.5:c.1018A>T NP_071437.3:p.Ile340Phe
XM_005263177.1:c.1018A>T XP_005263234.1:p.Ile340Phe
XM_011532182.1:c.376A>T XP_011530484.1:p.Ile126Phe
XM_005263177.2:c.1018A>T XP_005263234.1:p.Ile340Phe
XM_017008541.1:c.817A>T XP_016864030.1:p.Ile273Phe
XM_024454184.1:c.1018A>T XP_024309952.1:p.Ile340Phe
NM_001135146.2:c.1018A>T MANE Select NP_001128618.1:p.Ile340Phe
NM_001135148.2:c.817A>T NP_001128620.1:p.Ile273Phe