Canonical Allele Identifier: CA359478588

Gene: SLC1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36676981G>T , CM000667.2:g.36676981G>T	GRCh38
NC_000005.9:g.36677083G>T , CM000667.1:g.36677083G>T	GRCh37
NC_000005.8:g.36712840G>T	NCBI36
NG_015890.1:g.75627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265113.9:c.657G>T MANE Select	ENSP00000265113.4:p.Glu219Asp
ENST00000381918.4:c.657G>T	ENSP00000371343.4:p.Glu219Asp
ENST00000612708.5:c.525-2646G>T	ENSP00000483657.1:n.525-2646G>T
ENST00000613445.5:c.519G>T	ENSP00000477672.1:p.Glu173Asp
ENST00000624112.2:n.3650G>T
ENST00000679487.1:c.44-2774G>T
ENST00000679784.1:c.*569G>T	ENSP00000506030.1:n.*569G>T
ENST00000679958.1:c.320-9084G>T	ENSP00000505246.1:n.320-9084G>T
ENST00000679983.1:c.657G>T	ENSP00000505238.1:p.Glu219Asp
ENST00000679992.1:c.657G>T	ENSP00000506585.1:p.Glu219Asp
ENST00000680048.1:c.*1150G>T	ENSP00000505296.1:n.*1150G>T
ENST00000680064.1:n.1023G>T
ENST00000680125.1:c.657G>T	ENSP00000506424.1:p.Glu219Asp
ENST00000680232.1:c.657G>T	ENSP00000506207.1:p.Glu219Asp
ENST00000680318.1:c.657G>T	ENSP00000505057.1:p.Glu219Asp
ENST00000680655.1:c.*369G>T	ENSP00000506436.1:n.*369G>T
ENST00000680835.1:c.44-2646G>T
ENST00000680876.1:n.3838G>T
ENST00000680878.1:n.3838G>T
ENST00000680890.1:c.90G>T	ENSP00000505580.1:p.Glu30Asp
ENST00000681440.1:c.43+2890G>T
ENST00000681480.1:c.90G>T	ENSP00000506380.1:p.Glu30Asp
ENST00000681633.1:n.1023G>T
ENST00000681701.1:c.295G>T
ENST00000681814.1:n.772G>T
ENST00000681854.1:c.90G>T	ENSP00000504899.1:p.Glu30Asp
ENST00000681909.1:c.519G>T	ENSP00000506599.1:p.Glu173Asp
ENST00000681926.1:c.657G>T	ENSP00000505850.1:p.Glu219Asp
ENST00000265113.8:c.657G>T	ENSP00000265113.4:p.Glu219Asp
ENST00000381918.3:c.657G>T	ENSP00000371343.3:p.Glu219Asp
ENST00000505376.1:n.421G>T
ENST00000612708.4:c.525-2646G>T	ENSP00000483657.1:n.525-2646G>T
ENST00000613445.4:c.519G>T	ENSP00000477672.1:p.Glu173Asp
NM_001166695.2:c.657G>T	NP_001160167.1:p.Glu219Asp
NM_001289939.1:c.519G>T	NP_001276868.1:p.Glu173Asp
NM_001289940.1:c.525-2646G>T	NP_001276869.1:n.525-2646G>T
NM_004172.4:c.657G>T	NP_004163.3:p.Glu219Asp
XM_005248342.1:c.657G>T	XP_005248399.1:p.Glu219Asp
XM_011514084.1:c.336G>T	XP_011512386.1:p.Glu112Asp
XM_005248342.3:c.657G>T	XP_005248399.1:p.Glu219Asp
XM_011514084.2:c.336G>T	XP_011512386.1:p.Glu112Asp
XM_024446181.1:c.657G>T	XP_024301949.1:p.Glu219Asp
XM_024446182.1:c.657G>T	XP_024301950.1:p.Glu219Asp
NM_004172.5:c.657G>T MANE Select	NP_004163.3:p.Glu219Asp
NM_001166695.3:c.657G>T	NP_001160167.1:p.Glu219Asp
NM_001289939.2:c.519G>T	NP_001276868.1:p.Glu173Asp
NM_001289940.2:c.525-2646G>T	NP_001276869.1:n.525-2646G>T