Canonical Allele Identifier: CA254816

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 9441
• ClinVar RCV Id: RCV000010048
• dbSNP Id: rs137852619
• MyVariant Identifiers: chr5:g.36679737C>G (hg19) ; chr5:g.36679635C>G (hg38)
• PubMed: PMID:16116111 ; PMID:23107647 ; PMID:24214974

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36679635C>G , CM000667.2:g.36679635C>G	GRCh38
NC_000005.9:g.36679737C>G , CM000667.1:g.36679737C>G	GRCh37
NC_000005.8:g.36715494C>G	NCBI36
NG_015890.1:g.78281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265113.9:c.869C>G MANE Select	ENSP00000265113.4:p.Pro290Arg
ENST00000381918.4:c.869C>G	ENSP00000371343.4:p.Pro290Arg
ENST00000612708.5:c.533C>G	ENSP00000483657.1:p.Pro178Arg
ENST00000613445.5:c.731C>G	ENSP00000477672.1:p.Pro244Arg
ENST00000624112.2:n.3862C>G
ENST00000679384.1:n.9C>G
ENST00000679487.1:c.44-120C>G
ENST00000679784.1:c.*781C>G	ENSP00000506030.1:n.*781C>G
ENST00000679852.1:c.9C>G
ENST00000679958.1:c.320-6430C>G	ENSP00000505246.1:n.320-6430C>G
ENST00000679983.1:c.869C>G	ENSP00000505238.1:p.Pro290Arg
ENST00000679992.1:c.869C>G	ENSP00000506585.1:p.Pro290Arg
ENST00000680048.1:c.*1362C>G	ENSP00000505296.1:n.*1362C>G
ENST00000680064.1:n.3677C>G
ENST00000680125.1:c.869C>G	ENSP00000506424.1:p.Pro290Arg
ENST00000680232.1:c.1010C>G	ENSP00000506207.1:p.Pro337Arg
ENST00000680318.1:c.869C>G	ENSP00000505057.1:p.Pro290Arg
ENST00000680369.1:c.9C>G
ENST00000680655.1:c.*581C>G	ENSP00000506436.1:n.*581C>G
ENST00000680835.1:c.52C>G
ENST00000680876.1:n.4050C>G
ENST00000680878.1:n.4050C>G
ENST00000680890.1:c.294-760C>G	ENSP00000505580.1:n.294-760C>G
ENST00000681440.1:c.44-4229C>G
ENST00000681480.1:c.294-120C>G	ENSP00000506380.1:n.294-120C>G
ENST00000681633.1:n.3677C>G
ENST00000681701.1:c.507C>G
ENST00000681814.1:n.984C>G
ENST00000681854.1:c.340+9C>G	ENSP00000504899.1:n.340+9C>G
ENST00000681909.1:c.731C>G	ENSP00000506599.1:p.Pro244Arg
ENST00000681926.1:c.869C>G	ENSP00000505850.1:p.Pro290Arg
ENST00000265113.8:c.869C>G	ENSP00000265113.4:p.Pro290Arg
ENST00000381918.3:c.869C>G	ENSP00000371343.3:p.Pro290Arg
ENST00000612708.4:c.533C>G	ENSP00000483657.1:p.Pro178Arg
ENST00000613445.4:c.731C>G	ENSP00000477672.1:p.Pro244Arg
NM_001166695.2:c.869C>G	NP_001160167.1:p.Pro290Arg
NM_001289939.1:c.731C>G	NP_001276868.1:p.Pro244Arg
NM_001289940.1:c.533C>G	NP_001276869.1:p.Pro178Arg
NM_004172.4:c.869C>G	NP_004163.3:p.Pro290Arg
XM_005248342.1:c.869C>G	XP_005248399.1:p.Pro290Arg
XM_011514084.1:c.548C>G	XP_011512386.1:p.Pro183Arg
XM_005248342.3:c.869C>G	XP_005248399.1:p.Pro290Arg
XM_011514084.2:c.548C>G	XP_011512386.1:p.Pro183Arg
XM_024446181.1:c.869C>G	XP_024301949.1:p.Pro290Arg
XM_024446182.1:c.869C>G	XP_024301950.1:p.Pro290Arg
NM_004172.5:c.869C>G MANE Select	NP_004163.3:p.Pro290Arg
NM_001166695.3:c.869C>G	NP_001160167.1:p.Pro290Arg
NM_001289939.2:c.731C>G	NP_001276868.1:p.Pro244Arg
NM_001289940.2:c.533C>G	NP_001276869.1:p.Pro178Arg