Canonical Allele Identifier: CA4941623

Gene: SLC39A4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144415248C>T , CM000670.2:g.144415248C>T	GRCh38
NC_000008.10:g.145640632C>T , CM000670.1:g.145640632C>T	GRCh37
NC_000008.9:g.145611440C>T	NCBI36
NG_012234.2:g.6643G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_130849.4:c.646G>A MANE Select	NP_570901.3:p.Glu216Lys
ENST00000301305.8:c.646G>A MANE Select	ENSP00000301305.4:p.Glu216Lys
NM_001374839.1:c.364G>A	NP_001361768.1:p.Glu122Lys
NM_017767.2:c.571G>A	NP_060237.2:p.Glu191Lys
NM_017767.3:c.571G>A	NP_060237.3:p.Glu191Lys
NM_130849.3:c.646G>A	NP_570901.2:p.Glu216Lys
ENST00000276833.9:c.571G>A	ENSP00000276833.5:p.Glu191Lys
ENST00000301305.7:c.646G>A	ENSP00000301305.3:p.Glu216Lys
ENST00000526658.1:c.364G>A	ENSP00000434512.1:p.Glu122Lys
XM_006716599.1:c.646G>A	XP_006716662.1:p.Glu216Lys
XM_011517153.1:c.364G>A	XP_011515455.1:p.Glu122Lys
XM_024447188.1:c.364G>A	XP_024302956.1:p.Glu122Lys
XM_024447189.1:c.364G>A	XP_024302957.1:p.Glu122Lys