Canonical Allele Identifier: CA383784640

Gene: SLC2A14

Linked Data

• MyVariant Identifiers: chr12:g.7970627G>C (hg19) ; chr12:g.7818031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7818031G>C , CM000674.2:g.7818031G>C	GRCh38
NC_000012.11:g.7970627G>C , CM000674.1:g.7970627G>C	GRCh37
NC_000012.10:g.7861894G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431042.7:c.1075C>G MANE Select	ENSP00000407287.2:p.His359Asp
ENST00000340749.9:c.1075C>G	ENSP00000340450.5:p.His359Asp
ENST00000396589.6:c.1144C>G	ENSP00000379834.2:p.His382Asp
ENST00000431042.6:c.1075C>G	ENSP00000407287.2:p.His359Asp
ENST00000535295.5:c.817C>G	ENSP00000440492.1:p.His273Asp
ENST00000539924.5:c.1189C>G	ENSP00000445929.1:p.His397Asp
ENST00000542505.5:c.67C>G	ENSP00000438484.1:p.His23Asp
ENST00000542546.5:c.817C>G	ENSP00000443903.1:p.His273Asp
ENST00000543909.5:c.1144C>G	ENSP00000440480.1:p.His382Asp
ENST00000616981.4:c.1144C>G	ENSP00000482927.1:p.His382Asp
NM_001286233.1:c.1144C>G	NP_001273162.1:p.His382Asp
NM_001286234.1:c.1075C>G	NP_001273163.1:p.His359Asp
NM_001286235.1:c.1075C>G	NP_001273164.1:p.His359Asp
NM_001286236.1:c.817C>G	NP_001273165.1:p.His273Asp
NM_001286237.1:c.1189C>G	NP_001273166.1:p.His397Asp
NM_153449.3:c.1144C>G	NP_703150.1:p.His382Asp
XM_005253315.2:c.1075C>G	XP_005253372.1:p.His359Asp
XM_005253317.3:c.1075C>G	XP_005253374.1:p.His359Asp
XM_011520561.1:c.1078C>G	XP_011518863.1:p.His360Asp
XM_011520562.1:c.1075C>G	XP_011518864.1:p.His359Asp
XM_011520563.1:c.1075C>G	XP_011518865.1:p.His359Asp
XM_011520564.1:c.817C>G	XP_011518866.1:p.His273Asp
XM_011520565.1:c.817C>G	XP_011518867.1:p.His273Asp
XM_005253315.4:c.1075C>G	XP_005253372.1:p.His359Asp
XM_005253317.5:c.1075C>G	XP_005253374.1:p.His359Asp
XM_011520563.2:c.1075C>G	XP_011518865.1:p.His359Asp
XM_011520564.2:c.817C>G	XP_011518866.1:p.His273Asp
XM_011520565.2:c.817C>G	XP_011518867.1:p.His273Asp
XM_017018841.1:c.1147C>G	XP_016874330.1:p.His383Asp
XM_017018844.1:c.1147C>G	XP_016874333.1:p.His383Asp
XM_017018845.2:c.1147C>G	XP_016874334.1:p.His383Asp
XM_017018846.1:c.1075C>G	XP_016874335.1:p.His359Asp
XM_017018847.1:c.1075C>G	XP_016874336.1:p.His359Asp
XM_024448848.1:c.1147C>G	XP_024304616.1:p.His383Asp
XM_024448849.1:c.1075C>G	XP_024304617.1:p.His359Asp
NM_001286233.2:c.1144C>G	NP_001273162.1:p.His382Asp
NM_001286234.2:c.1075C>G MANE Select	NP_001273163.1:p.His359Asp
NM_001286235.2:c.1075C>G	NP_001273164.1:p.His359Asp
NM_001286236.2:c.817C>G	NP_001273165.1:p.His273Asp
NM_001286237.2:c.1189C>G	NP_001273166.1:p.His397Asp
NM_153449.4:c.1144C>G	NP_703150.1:p.His382Asp