Canonical Allele Identifier: CA4941845
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 362265
dbSNP Id: rs2280838

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144416618C>T , CM000670.2:g.144416618C>T GRCh38
NC_000008.10:g.145642002C>T , CM000670.1:g.145642002C>T GRCh37
NC_000008.9:g.145612810C>T NCBI36
NG_012234.2:g.5273G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301305.8:c.172G>A MANE Select ENSP00000301305.4:p.Ala58Thr
ENST00000301305.7:c.172G>A ENSP00000301305.3:p.Ala58Thr
ENST00000526658.1:c.172G>A ENSP00000434512.1:p.Ala58Thr
NM_130849.3:c.172G>A NP_570901.2:p.Ala58Thr
XM_006716599.1:c.172G>A XP_006716662.1:p.Ala58Thr
XM_011517153.1:c.172G>A XP_011515455.1:p.Ala58Thr
XM_024447188.1:c.172G>A XP_024302956.1:p.Ala58Thr
XM_024447189.1:c.172G>A XP_024302957.1:p.Ala58Thr
NM_001374839.1:c.172G>A NP_001361768.1:p.Ala58Thr
NM_130849.4:c.172G>A MANE Select NP_570901.3:p.Ala58Thr