Canonical Allele Identifier: CA372620122
Gene: SLC39A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414067T>A , CM000670.2:g.144414067T>A GRCh38
NC_000008.10:g.145639451T>A , CM000670.1:g.145639451T>A GRCh37
NC_000008.9:g.145610259T>A NCBI36
NG_012234.2:g.7824A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1178A>T MANE Select ENSP00000301305.4:p.Glu393Val
ENST00000276833.9:c.1103A>T ENSP00000276833.5:p.Glu368Val
ENST00000301305.7:c.1178A>T ENSP00000301305.3:p.Glu393Val
ENST00000531789.1:n.15A>T
NM_017767.2:c.1103A>T NP_060237.2:p.Glu368Val
NM_130849.3:c.1178A>T NP_570901.2:p.Glu393Val
XM_006716599.1:c.1178A>T XP_006716662.1:p.Glu393Val
XM_011517153.1:c.896A>T XP_011515455.1:p.Glu299Val
XM_024447188.1:c.896A>T XP_024302956.1:p.Glu299Val
XM_024447189.1:c.896A>T XP_024302957.1:p.Glu299Val
NM_001374839.1:c.896A>T NP_001361768.1:p.Glu299Val
NM_017767.3:c.1103A>T NP_060237.3:p.Glu368Val
NM_130849.4:c.1178A>T MANE Select NP_570901.3:p.Glu393Val