Canonical Allele Identifier: CA10584028

Gene: SLC39A14

Linked Data

• ClinVar Variation Id: 242925
• ClinVar RCV Id: RCV000234923
• dbSNP Id: rs879253764
• COSMIC: COSM3647287 ; COSM3647288
• MyVariant Identifiers: chr8:g.22265865G>T (hg19) ; chr8:g.22408352G>T (hg38)
• PubMed: PMID:27231142 ; PMID:28541650

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22408352G>T , CM000670.2:g.22408352G>T	GRCh38
NC_000008.10:g.22265865G>T , CM000670.1:g.22265865G>T	GRCh37
NC_000008.9:g.22321810G>T	NCBI36
NG_054890.1:g.46104G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359741.10:c.313G>T MANE Plus Clinical	ENSP00000352779.5:p.Glu105Ter
ENST00000381237.6:c.313G>T MANE Select	ENSP00000370635.1:p.Glu105Ter
ENST00000240095.10:c.313G>T	ENSP00000240095.6:p.Glu105Ter
ENST00000289952.9:c.313G>T	ENSP00000289952.5:p.Glu105Ter
ENST00000359741.9:c.313G>T	ENSP00000352779.5:p.Glu105Ter
ENST00000381237.5:c.313G>T	ENSP00000370635.1:p.Glu105Ter
ENST00000517552.1:c.313G>T	ENSP00000430564.1:p.Glu105Ter
ENST00000519960.5:c.313G>T	ENSP00000430629.1:p.Glu105Ter
ENST00000522881.2:c.313G>T	ENSP00000429328.2:p.Glu105Ter
NM_001128431.2:c.313G>T	NP_001121903.1:p.Glu105Ter
NM_001135153.1:c.313G>T	NP_001128625.1:p.Glu105Ter
NM_001135154.1:c.313G>T	NP_001128626.1:p.Glu105Ter
NM_015359.4:c.313G>T	NP_056174.2:p.Glu105Ter
XM_005273463.1:c.343G>T	XP_005273520.1:p.Glu115Ter
XM_005273465.1:c.313G>T	XP_005273522.1:p.Glu105Ter
XM_005273466.3:c.313G>T	XP_005273523.1:p.Glu105Ter
XM_006716323.1:c.343G>T	XP_006716386.1:p.Glu115Ter
XM_006716324.1:c.313G>T	XP_006716387.1:p.Glu105Ter
XM_011544477.1:c.313G>T	XP_011542779.1:p.Glu105Ter
XM_011544478.1:c.313G>T	XP_011542780.1:p.Glu105Ter
NM_001128431.3:c.313G>T	NP_001121903.1:p.Glu105Ter
NM_001135153.2:c.313G>T	NP_001128625.1:p.Glu105Ter
NM_001135154.2:c.313G>T	NP_001128626.1:p.Glu105Ter
NM_001351655.1:c.313G>T	NP_001338584.1:p.Glu105Ter
NM_001351656.1:c.313G>T	NP_001338585.1:p.Glu105Ter
NM_001351657.1:c.343G>T	NP_001338586.1:p.Glu115Ter
NM_001351658.1:c.343G>T	NP_001338587.1:p.Glu115Ter
NM_001351659.1:c.343G>T	NP_001338588.1:p.Glu115Ter
NM_001351660.1:c.313G>T	NP_001338589.1:p.Glu105Ter
NM_015359.5:c.313G>T	NP_056174.2:p.Glu105Ter
XM_005273466.4:c.313G>T	XP_005273523.1:p.Glu105Ter
XM_006716324.3:c.313G>T	XP_006716387.1:p.Glu105Ter
XM_011544478.3:c.313G>T	XP_011542780.1:p.Glu105Ter
XM_017013293.2:c.343G>T	XP_016868782.1:p.Glu115Ter
NM_001128431.4:c.313G>T MANE Select	NP_001121903.1:p.Glu105Ter
NM_001135153.3:c.313G>T	NP_001128625.1:p.Glu105Ter
NM_001135154.3:c.313G>T	NP_001128626.1:p.Glu105Ter
NM_001351655.2:c.313G>T	NP_001338584.1:p.Glu105Ter
NM_001351656.2:c.313G>T	NP_001338585.1:p.Glu105Ter
NM_001351657.2:c.343G>T	NP_001338586.1:p.Glu115Ter
NM_001351658.2:c.343G>T	NP_001338587.1:p.Glu115Ter
NM_001351659.2:c.343G>T	NP_001338588.1:p.Glu115Ter
NM_001351660.2:c.313G>T	NP_001338589.1:p.Glu105Ter
NM_015359.6:c.313G>T MANE Plus Clinical	NP_056174.2:p.Glu105Ter