Canonical Allele Identifier: CA4941162
Community Standard Title: NM_130849.4(SLC39A4):c.1534G>T (p.Gly512Trp)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144413330C>A , CM000670.2:g.144413330C>A GRCh38
NC_000008.10:g.145638714C>A , CM000670.1:g.145638714C>A GRCh37
NC_000008.9:g.145609522C>A NCBI36
NG_012234.2:g.8561G>T

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.1534G>T MANE Select NP_570901.3:p.Gly512Trp
ENST00000301305.8:c.1534G>T MANE Select ENSP00000301305.4:p.Gly512Trp
NM_001280557.1:c.40G>T NP_001267486.1:p.Gly14Trp
NM_001280557.2:c.40G>T NP_001267486.1:p.Gly14Trp
NM_001374839.1:c.1252G>T NP_001361768.1:p.Gly418Trp
NM_017767.2:c.1459G>T NP_060237.2:p.Gly487Trp
NM_017767.3:c.1459G>T NP_060237.3:p.Gly487Trp
NM_130849.3:c.1534G>T NP_570901.2:p.Gly512Trp
ENST00000276833.9:c.1459G>T ENSP00000276833.5:p.Gly487Trp
ENST00000301305.7:c.1534G>T ENSP00000301305.3:p.Gly512Trp
ENST00000527148.5:n.119G>T
ENST00000529462.5:n.133G>T
ENST00000530807.5:n.57+183G>T
ENST00000531013.1:n.262G>T
ENST00000532718.5:n.134G>T
XM_006716599.1:c.1474+183G>T XP_006716662.1:n.1474+183G>T
XM_011517153.1:c.1252G>T XP_011515455.1:p.Gly418Trp
XM_024447188.1:c.1252G>T XP_024302956.1:p.Gly418Trp
XM_024447189.1:c.1192+183G>T XP_024302957.1:n.1192+183G>T