Canonical Allele Identifier: CA372620052
Gene: SLC39A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414055G>A , CM000670.2:g.144414055G>A GRCh38
NC_000008.10:g.145639439G>A , CM000670.1:g.145639439G>A GRCh37
NC_000008.9:g.145610247G>A NCBI36
NG_012234.2:g.7836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1190C>T MANE Select ENSP00000301305.4:p.Pro397Leu
ENST00000276833.9:c.1115C>T ENSP00000276833.5:p.Pro372Leu
ENST00000301305.7:c.1190C>T ENSP00000301305.3:p.Pro397Leu
ENST00000531789.1:n.27C>T
NM_017767.2:c.1115C>T NP_060237.2:p.Pro372Leu
NM_130849.3:c.1190C>T NP_570901.2:p.Pro397Leu
XM_006716599.1:c.1190C>T XP_006716662.1:p.Pro397Leu
XM_011517153.1:c.908C>T XP_011515455.1:p.Pro303Leu
XM_024447188.1:c.908C>T XP_024302956.1:p.Pro303Leu
XM_024447189.1:c.908C>T XP_024302957.1:p.Pro303Leu
NM_001374839.1:c.908C>T NP_001361768.1:p.Pro303Leu
NM_017767.3:c.1115C>T NP_060237.3:p.Pro372Leu
NM_130849.4:c.1190C>T MANE Select NP_570901.3:p.Pro397Leu