Canonical Allele Identifier: CA372620036
Gene: SLC39A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414051C>G , CM000670.2:g.144414051C>G GRCh38
NC_000008.10:g.145639435C>G , CM000670.1:g.145639435C>G GRCh37
NC_000008.9:g.145610243C>G NCBI36
NG_012234.2:g.7840G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1194G>C MANE Select ENSP00000301305.4:p.Gln398His
ENST00000276833.9:c.1119G>C ENSP00000276833.5:p.Gln373His
ENST00000301305.7:c.1194G>C ENSP00000301305.3:p.Gln398His
ENST00000531789.1:n.31G>C
NM_017767.2:c.1119G>C NP_060237.2:p.Gln373His
NM_130849.3:c.1194G>C NP_570901.2:p.Gln398His
XM_006716599.1:c.1194G>C XP_006716662.1:p.Gln398His
XM_011517153.1:c.912G>C XP_011515455.1:p.Gln304His
XM_024447188.1:c.912G>C XP_024302956.1:p.Gln304His
XM_024447189.1:c.912G>C XP_024302957.1:p.Gln304His
NM_001374839.1:c.912G>C NP_001361768.1:p.Gln304His
NM_017767.3:c.1119G>C NP_060237.3:p.Gln373His
NM_130849.4:c.1194G>C MANE Select NP_570901.3:p.Gln398His