Canonical Allele Identifier: CA372621380
Gene: SLC39A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414417G>T , CM000670.2:g.144414417G>T GRCh38
NC_000008.10:g.145639801G>T , CM000670.1:g.145639801G>T GRCh37
NC_000008.9:g.145610609G>T NCBI36
NG_012234.2:g.7474C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301305.8:c.994C>A MANE Select ENSP00000301305.4:p.Leu332Met
ENST00000276833.9:c.919C>A ENSP00000276833.5:p.Leu307Met
ENST00000301305.7:c.994C>A ENSP00000301305.3:p.Leu332Met
NM_017767.2:c.919C>A NP_060237.2:p.Leu307Met
NM_130849.3:c.994C>A NP_570901.2:p.Leu332Met
XM_006716599.1:c.994C>A XP_006716662.1:p.Leu332Met
XM_011517153.1:c.712C>A XP_011515455.1:p.Leu238Met
XM_024447188.1:c.712C>A XP_024302956.1:p.Leu238Met
XM_024447189.1:c.712C>A XP_024302957.1:p.Leu238Met
NM_001374839.1:c.712C>A NP_001361768.1:p.Leu238Met
NM_017767.3:c.919C>A NP_060237.3:p.Leu307Met
NM_130849.4:c.994C>A MANE Select NP_570901.3:p.Leu332Met