Canonical Allele Identifier: CA116337
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3542
ClinVar RCV Id: RCV000003720
dbSNP Id: rs121434291

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414422C>T , CM000670.2:g.144414422C>T GRCh38
NC_000008.10:g.145639806C>T , CM000670.1:g.145639806C>T GRCh37
NC_000008.9:g.145610614C>T NCBI36
NG_012234.2:g.7469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.989G>A MANE Select ENSP00000301305.4:p.Gly330Asp
ENST00000276833.9:c.914G>A ENSP00000276833.5:p.Gly305Asp
ENST00000301305.7:c.989G>A ENSP00000301305.3:p.Gly330Asp
NM_017767.2:c.914G>A NP_060237.2:p.Gly305Asp
NM_130849.3:c.989G>A NP_570901.2:p.Gly330Asp
XM_006716599.1:c.989G>A XP_006716662.1:p.Gly330Asp
XM_011517153.1:c.707G>A XP_011515455.1:p.Gly236Asp
XM_024447188.1:c.707G>A XP_024302956.1:p.Gly236Asp
XM_024447189.1:c.707G>A XP_024302957.1:p.Gly236Asp
NM_001374839.1:c.707G>A NP_001361768.1:p.Gly236Asp
NM_017767.3:c.914G>A NP_060237.3:p.Gly305Asp
NM_130849.4:c.989G>A MANE Select NP_570901.3:p.Gly330Asp