Canonical Allele Identifier: CA117023587

Gene: SLC1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36629565T>G , CM000667.2:g.36629565T>G	GRCh38
NC_000005.9:g.36629667T>G , CM000667.1:g.36629667T>G	GRCh37
NC_000005.8:g.36665424T>G	NCBI36
NG_015890.1:g.28211T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004172.5:c.297T>G MANE Select	NP_004163.3:p.Leu99=
ENST00000265113.9:c.297T>G MANE Select	ENSP00000265113.4:p.Leu99=
NM_001166695.2:c.297T>G	NP_001160167.1:p.Leu99=
NM_001166695.3:c.297T>G	NP_001160167.1:p.Leu99=
NM_001289939.1:c.181+20961T>G	NP_001276868.1:n.181+20961T>G
NM_001289939.2:c.181+20961T>G	NP_001276868.1:n.181+20961T>G
NM_001289940.1:c.297T>G	NP_001276869.1:p.Leu99=
NM_001289940.2:c.297T>G	NP_001276869.1:p.Leu99=
NM_004172.4:c.297T>G	NP_004163.3:p.Leu99=
ENST00000265113.8:c.297T>G	ENSP00000265113.4:p.Leu99=
ENST00000381918.3:c.297T>G	ENSP00000371343.3:p.Leu99=
ENST00000381918.4:c.297T>G	ENSP00000371343.4:p.Leu99=
ENST00000502864.5:n.231T>G
ENST00000502864.6:n.532T>G
ENST00000505202.5:c.297T>G	ENSP00000424986.1:p.Leu99=
ENST00000509272.1:n.317T>G
ENST00000513646.1:c.297T>G	ENSP00000420992.1:p.Leu99=
ENST00000513903.5:c.297T>G	ENSP00000427203.1:p.Leu99=
ENST00000514563.5:n.362T>G
ENST00000612708.4:c.297T>G	ENSP00000483657.1:p.Leu99=
ENST00000612708.5:c.297T>G	ENSP00000483657.1:p.Leu99=
ENST00000613445.4:c.181+20961T>G	ENSP00000477672.1:n.181+20961T>G
ENST00000613445.5:c.181+20961T>G	ENSP00000477672.1:n.181+20961T>G
ENST00000679423.1:c.340T>G	ENSP00000505306.1:p.Tyr114Asp
ENST00000679784.1:c.297T>G	ENSP00000506030.1:p.Leu99=
ENST00000679958.1:c.297T>G	ENSP00000505246.1:p.Leu99=
ENST00000679983.1:c.297T>G	ENSP00000505238.1:p.Leu99=
ENST00000679992.1:c.297T>G	ENSP00000506585.1:p.Leu99=
ENST00000680048.1:c.297T>G	ENSP00000505296.1:p.Leu99=
ENST00000680064.1:n.663T>G
ENST00000680125.1:c.297T>G	ENSP00000506424.1:p.Leu99=
ENST00000680205.1:n.663T>G
ENST00000680232.1:c.297T>G	ENSP00000506207.1:p.Leu99=
ENST00000680318.1:c.297T>G	ENSP00000505057.1:p.Leu99=
ENST00000680527.1:c.*77T>G	ENSP00000504868.1:n.*77T>G
ENST00000680655.1:c.297T>G	ENSP00000506436.1:p.Leu99=
ENST00000680711.1:n.505T>G
ENST00000680876.1:n.663T>G
ENST00000680878.1:n.663T>G
ENST00000681623.1:n.116T>G
ENST00000681633.1:n.663T>G
ENST00000681775.1:n.532T>G
ENST00000681795.1:c.81T>G	ENSP00000505679.1:p.Leu27=
ENST00000681814.1:n.412T>G
ENST00000681909.1:c.181+20961T>G	ENSP00000506599.1:n.181+20961T>G
ENST00000681926.1:c.297T>G	ENSP00000505850.1:p.Leu99=
XM_005248342.1:c.297T>G	XP_005248399.1:p.Leu99=
XM_005248342.3:c.297T>G	XP_005248399.1:p.Leu99=
XM_011514084.1:c.-127T>G	XP_011512386.1:n.-127T>G
XM_011514084.2:c.-127T>G	XP_011512386.1:n.-127T>G
XM_024446181.1:c.297T>G	XP_024301949.1:p.Leu99=
XM_024446182.1:c.297T>G	XP_024301950.1:p.Leu99=