Canonical Allele Identifier: CA117427481

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 907445
• ClinVar RCV Id: RCV001157295
• dbSNP Id: rs139308938
• gnomAD v3: 5-36687297-A-G
• gnomAD v4: 5-36687297-A-G
• MyVariant Identifiers: chr5:g.36687399A>G (hg19) ; chr5:g.36687297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36687297A>G , CM000667.2:g.36687297A>G	GRCh38
NC_000005.9:g.36687399A>G , CM000667.1:g.36687399A>G	GRCh37
NC_000005.8:g.36723156A>G	NCBI36
NG_015890.1:g.85943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265113.9:c.*1028A>G MANE Select	ENSP00000265113.4:n.*1028A>G
ENST00000381918.4:c.*1028A>G	ENSP00000371343.4:n.*1028A>G
ENST00000612708.5:c.*1028A>G	ENSP00000483657.1:n.*1028A>G
ENST00000613445.5:c.*1028A>G	ENSP00000477672.1:n.*1028A>G
ENST00000624112.2:n.5650A>G
ENST00000679784.1:c.*2569A>G	ENSP00000506030.1:n.*2569A>G
ENST00000679852.1:c.1467A>G
ENST00000679958.1:c.*1150A>G	ENSP00000505246.1:n.*1150A>G
ENST00000679983.1:c.*1028A>G	ENSP00000505238.1:n.*1028A>G
ENST00000679992.1:c.*1028A>G	ENSP00000506585.1:n.*1028A>G
ENST00000680048.1:c.*3150A>G	ENSP00000505296.1:n.*3150A>G
ENST00000680125.1:c.*1028A>G	ENSP00000506424.1:n.*1028A>G
ENST00000680232.1:c.*1028A>G	ENSP00000506207.1:n.*1028A>G
ENST00000680318.1:c.*1028A>G	ENSP00000505057.1:n.*1028A>G
ENST00000680568.1:n.1885A>G
ENST00000680655.1:c.*2369A>G	ENSP00000506436.1:n.*2369A>G
ENST00000680876.1:n.5838A>G
ENST00000680878.1:n.5703A>G
ENST00000681633.1:n.5465A>G
ENST00000681926.1:c.*1028A>G	ENSP00000505850.1:n.*1028A>G
ENST00000265113.8:c.*1028A>G	ENSP00000265113.4:n.*1028A>G
ENST00000381918.3:c.*1028A>G	ENSP00000371343.3:n.*1028A>G
ENST00000612708.4:c.*1028A>G	ENSP00000483657.1:n.*1028A>G
ENST00000613445.4:c.*1028A>G	ENSP00000477672.1:n.*1028A>G
NM_001166695.2:c.*1028A>G	NP_001160167.1:n.*1028A>G
NM_001289939.1:c.*1028A>G	NP_001276868.1:n.*1028A>G
NM_001289940.1:c.*1028A>G	NP_001276869.1:n.*1028A>G
NM_004172.4:c.*1028A>G	NP_004163.3:n.*1028A>G
XM_005248342.1:c.*1028A>G	XP_005248399.1:n.*1028A>G
XM_011514084.1:c.*1028A>G	XP_011512386.1:n.*1028A>G
XM_005248342.3:c.*1028A>G	XP_005248399.1:n.*1028A>G
XM_011514084.2:c.*1028A>G	XP_011512386.1:n.*1028A>G
XM_024446181.1:c.*1028A>G	XP_024301949.1:n.*1028A>G
XM_024446182.1:c.*1028A>G	XP_024301950.1:n.*1028A>G
NM_004172.5:c.*1028A>G MANE Select	NP_004163.3:n.*1028A>G
NM_001166695.3:c.*1028A>G	NP_001160167.1:n.*1028A>G
NM_001289939.2:c.*1028A>G	NP_001276868.1:n.*1028A>G
NM_001289940.2:c.*1028A>G	NP_001276869.1:n.*1028A>G