Canonical Allele Identifier: CA4941418
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 362243
dbSNP Id: rs782166922

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414376G>T , CM000670.2:g.144414376G>T GRCh38
NC_000008.10:g.145639760G>T , CM000670.1:g.145639760G>T GRCh37
NC_000008.9:g.145610568G>T NCBI36
NG_012234.2:g.7515C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1035C>A MANE Select ENSP00000301305.4:p.Leu345=
ENST00000276833.9:c.960C>A ENSP00000276833.5:p.Leu320=
ENST00000301305.7:c.1035C>A ENSP00000301305.3:p.Leu345=
NM_017767.2:c.960C>A NP_060237.2:p.Leu320=
NM_130849.3:c.1035C>A NP_570901.2:p.Leu345=
XM_006716599.1:c.1035C>A XP_006716662.1:p.Leu345=
XM_011517153.1:c.753C>A XP_011515455.1:p.Leu251=
XM_024447188.1:c.753C>A XP_024302956.1:p.Leu251=
XM_024447189.1:c.753C>A XP_024302957.1:p.Leu251=
NM_001374839.1:c.753C>A NP_001361768.1:p.Leu251=
NM_017767.3:c.960C>A NP_060237.3:p.Leu320=
NM_130849.4:c.1035C>A MANE Select NP_570901.3:p.Leu345=