Canonical Allele Identifier: CA4941272
Community Standard Title: NM_130849.4(SLC39A4):c.1323T>C (p.His441=)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144413846A>G , CM000670.2:g.144413846A>G GRCh38
NC_000008.10:g.145639230A>G , CM000670.1:g.145639230A>G GRCh37
NC_000008.9:g.145610038A>G NCBI36
NG_012234.2:g.8045T>C

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.1323T>C MANE Select NP_570901.3:p.His441=
ENST00000301305.8:c.1323T>C MANE Select ENSP00000301305.4:p.His441=
NM_001374839.1:c.1041T>C NP_001361768.1:p.His347=
NM_017767.2:c.1248T>C NP_060237.2:p.His416=
NM_017767.3:c.1248T>C NP_060237.3:p.His416=
NM_130849.3:c.1323T>C NP_570901.2:p.His441=
ENST00000276833.9:c.1248T>C ENSP00000276833.5:p.His416=
ENST00000301305.7:c.1323T>C ENSP00000301305.3:p.His441=
ENST00000531789.1:n.160T>C
XM_006716599.1:c.1323T>C XP_006716662.1:p.His441=
XM_011517153.1:c.1041T>C XP_011515455.1:p.His347=
XM_024447188.1:c.1041T>C XP_024302956.1:p.His347=
XM_024447189.1:c.1041T>C XP_024302957.1:p.His347=