Canonical Allele Identifier: CA372621286
Gene: SLC39A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414369G>C , CM000670.2:g.144414369G>C GRCh38
NC_000008.10:g.145639753G>C , CM000670.1:g.145639753G>C GRCh37
NC_000008.9:g.145610561G>C NCBI36
NG_012234.2:g.7522C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.1042C>G MANE Select ENSP00000301305.4:p.Leu348Val
ENST00000276833.9:c.967C>G ENSP00000276833.5:p.Leu323Val
ENST00000301305.7:c.1042C>G ENSP00000301305.3:p.Leu348Val
NM_017767.2:c.967C>G NP_060237.2:p.Leu323Val
NM_130849.3:c.1042C>G NP_570901.2:p.Leu348Val
XM_006716599.1:c.1042C>G XP_006716662.1:p.Leu348Val
XM_011517153.1:c.760C>G XP_011515455.1:p.Leu254Val
XM_024447188.1:c.760C>G XP_024302956.1:p.Leu254Val
XM_024447189.1:c.760C>G XP_024302957.1:p.Leu254Val
NM_001374839.1:c.760C>G NP_001361768.1:p.Leu254Val
NM_017767.3:c.967C>G NP_060237.3:p.Leu323Val
NM_130849.4:c.1042C>G MANE Select NP_570901.3:p.Leu348Val