Canonical Allele Identifier: CA372617396
Community Standard Title: NM_130849.4(SLC39A4):c.1888G>C (p.Gly630Arg)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144412594C>G , CM000670.2:g.144412594C>G GRCh38
NC_000008.10:g.145637978C>G , CM000670.1:g.145637978C>G GRCh37
NC_000008.9:g.145608786C>G NCBI36
NG_012234.2:g.9297G>C

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.1888G>C MANE Select NP_570901.3:p.Gly630Arg
ENST00000301305.8:c.1888G>C MANE Select ENSP00000301305.4:p.Gly630Arg
NM_001280557.1:c.394G>C NP_001267486.1:p.Gly132Arg
NM_001280557.2:c.394G>C NP_001267486.1:p.Gly132Arg
NM_001374839.1:c.1606G>C NP_001361768.1:p.Gly536Arg
NM_017767.2:c.1813G>C NP_060237.2:p.Gly605Arg
NM_017767.3:c.1813G>C NP_060237.3:p.Gly605Arg
NM_130849.3:c.1888G>C NP_570901.2:p.Gly630Arg
ENST00000276833.9:c.1813G>C ENSP00000276833.5:p.Gly605Arg
ENST00000301305.7:c.1888G>C ENSP00000301305.3:p.Gly630Arg
ENST00000527148.5:n.473G>C
ENST00000529462.5:n.579G>C
ENST00000530807.5:n.318G>C
ENST00000531013.1:n.616G>C
ENST00000532718.5:n.488G>C
XM_006716599.1:c.1735G>C XP_006716662.1:p.Gly579Arg
XM_011517153.1:c.1606G>C XP_011515455.1:p.Gly536Arg
XM_024447188.1:c.1606G>C XP_024302956.1:p.Gly536Arg
XM_024447189.1:c.1453G>C XP_024302957.1:p.Gly485Arg