Canonical Allele Identifier: CA241530

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 195211
• ClinVar RCV Id: RCV000175770 ; RCV000279440
• dbSNP Id: rs754763002
• ExAC: 5:36608553 A / G
• gnomAD v2: 5-36608553-A-G
• gnomAD v3: 5-36608451-A-G
• gnomAD v4: 5-36608451-A-G
• MyVariant Identifiers: chr5:g.36608553A>G (hg19) ; chr5:g.36608451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36608451A>G , CM000667.2:g.36608451A>G	GRCh38
NC_000005.9:g.36608553A>G , CM000667.1:g.36608553A>G	GRCh37
NC_000005.8:g.36644310A>G	NCBI36
NG_015890.1:g.7097A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265113.9:c.28A>G MANE Select	ENSP00000265113.4:p.Lys10Glu
ENST00000381918.4:c.28A>G	ENSP00000371343.4:p.Lys10Glu
ENST00000502864.6:n.263A>G
ENST00000612708.5:c.28A>G	ENSP00000483657.1:p.Lys10Glu
ENST00000613445.5:c.28A>G	ENSP00000477672.1:p.Lys10Glu
ENST00000679423.1:c.28A>G	ENSP00000505306.1:p.Lys10Glu
ENST00000679784.1:c.28A>G	ENSP00000506030.1:p.Lys10Glu
ENST00000679958.1:c.28A>G	ENSP00000505246.1:p.Lys10Glu
ENST00000679983.1:c.28A>G	ENSP00000505238.1:p.Lys10Glu
ENST00000679992.1:c.28A>G	ENSP00000506585.1:p.Lys10Glu
ENST00000680048.1:c.28A>G	ENSP00000505296.1:p.Lys10Glu
ENST00000680064.1:n.394A>G
ENST00000680125.1:c.28A>G	ENSP00000506424.1:p.Lys10Glu
ENST00000680205.1:n.394A>G
ENST00000680212.1:n.123A>G
ENST00000680232.1:c.28A>G	ENSP00000506207.1:p.Lys10Glu
ENST00000680318.1:c.28A>G	ENSP00000505057.1:p.Lys10Glu
ENST00000680527.1:c.28A>G	ENSP00000504868.1:p.Lys10Glu
ENST00000680655.1:c.28A>G	ENSP00000506436.1:p.Lys10Glu
ENST00000680711.1:n.236A>G
ENST00000680876.1:n.394A>G
ENST00000680878.1:n.394A>G
ENST00000680908.1:c.28A>G	ENSP00000505338.1:p.Lys10Glu
ENST00000681633.1:n.394A>G
ENST00000681775.1:n.263A>G
ENST00000681776.1:c.28A>G	ENSP00000506165.1:p.Lys10Glu
ENST00000681795.1:c.-36+1716A>G	ENSP00000505679.1:n.-36+1716A>G
ENST00000681814.1:n.143A>G
ENST00000681848.1:n.123A>G
ENST00000681909.1:c.28A>G	ENSP00000506599.1:p.Lys10Glu
ENST00000681926.1:c.28A>G	ENSP00000505850.1:p.Lys10Glu
ENST00000265113.8:c.28A>G	ENSP00000265113.4:p.Lys10Glu
ENST00000381918.3:c.28A>G	ENSP00000371343.3:p.Lys10Glu
ENST00000416645.6:n.242A>G
ENST00000504121.5:n.336A>G
ENST00000505202.5:c.28A>G	ENSP00000424986.1:p.Lys10Glu
ENST00000506725.1:n.242A>G
ENST00000512374.1:n.248A>G
ENST00000513646.1:c.28A>G	ENSP00000420992.1:p.Lys10Glu
ENST00000513903.5:c.28A>G	ENSP00000427203.1:p.Lys10Glu
ENST00000612708.4:c.28A>G	ENSP00000483657.1:p.Lys10Glu
ENST00000613445.4:c.28A>G	ENSP00000477672.1:p.Lys10Glu
NM_001166695.2:c.28A>G	NP_001160167.1:p.Lys10Glu
NM_001166696.2:c.28A>G	NP_001160168.1:p.Lys10Glu
NM_001289939.1:c.28A>G	NP_001276868.1:p.Lys10Glu
NM_001289940.1:c.28A>G	NP_001276869.1:p.Lys10Glu
NM_004172.4:c.28A>G	NP_004163.3:p.Lys10Glu
XM_005248342.1:c.28A>G	XP_005248399.1:p.Lys10Glu
XM_011514084.1:c.-396A>G	XP_011512386.1:n.-396A>G
XM_005248342.3:c.28A>G	XP_005248399.1:p.Lys10Glu
XM_011514084.2:c.-396A>G	XP_011512386.1:n.-396A>G
XM_024446181.1:c.28A>G	XP_024301949.1:p.Lys10Glu
XM_024446182.1:c.28A>G	XP_024301950.1:p.Lys10Glu
NM_004172.5:c.28A>G MANE Select	NP_004163.3:p.Lys10Glu
NM_001166695.3:c.28A>G	NP_001160167.1:p.Lys10Glu
NM_001166696.3:c.28A>G	NP_001160168.1:p.Lys10Glu
NM_001289939.2:c.28A>G	NP_001276868.1:p.Lys10Glu
NM_001289940.2:c.28A>G	NP_001276869.1:p.Lys10Glu