Canonical Allele Identifier: CA372618592
Gene: SLC39A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144413288C>G , CM000670.2:g.144413288C>G GRCh38
NC_000008.10:g.145638672C>G , CM000670.1:g.145638672C>G GRCh37
NC_000008.9:g.145609480C>G NCBI36
NG_012234.2:g.8603G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1576G>C MANE Select ENSP00000301305.4:p.Gly526Arg
ENST00000276833.9:c.1501G>C ENSP00000276833.5:p.Gly501Arg
ENST00000301305.7:c.1576G>C ENSP00000301305.3:p.Gly526Arg
ENST00000527148.5:n.161G>C
ENST00000529462.5:n.175G>C
ENST00000530807.5:n.57+225G>C
ENST00000531013.1:n.304G>C
ENST00000532718.5:n.176G>C
NM_001280557.1:c.82G>C NP_001267486.1:p.Gly28Arg
NM_017767.2:c.1501G>C NP_060237.2:p.Gly501Arg
NM_130849.3:c.1576G>C NP_570901.2:p.Gly526Arg
XM_006716599.1:c.1474+225G>C XP_006716662.1:n.1474+225G>C
XM_011517153.1:c.1294G>C XP_011515455.1:p.Gly432Arg
XM_024447188.1:c.1294G>C XP_024302956.1:p.Gly432Arg
XM_024447189.1:c.1192+225G>C XP_024302957.1:n.1192+225G>C
NM_001280557.2:c.82G>C NP_001267486.1:p.Gly28Arg
NM_001374839.1:c.1294G>C NP_001361768.1:p.Gly432Arg
NM_017767.3:c.1501G>C NP_060237.3:p.Gly501Arg
NM_130849.4:c.1576G>C MANE Select NP_570901.3:p.Gly526Arg