Canonical Allele Identifier: CA10624409

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 353352
• ClinVar RCV Id: RCV000334523
• dbSNP Id: rs1803715
• gnomAD v2: 5-36687752-A-G
• gnomAD v3: 5-36687650-A-G
• gnomAD v4: 5-36687650-A-G
• MyVariant Identifiers: chr5:g.36687752A>G (hg19) ; chr5:g.36687650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36687650A>G , CM000667.2:g.36687650A>G	GRCh38
NC_000005.9:g.36687752A>G , CM000667.1:g.36687752A>G	GRCh37
NC_000005.8:g.36723509A>G	NCBI36
NG_015890.1:g.86296A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265113.9:c.*1381A>G MANE Select	ENSP00000265113.4:n.*1381A>G
ENST00000381918.4:c.*1381A>G	ENSP00000371343.4:n.*1381A>G
ENST00000612708.5:c.*1381A>G	ENSP00000483657.1:n.*1381A>G
ENST00000613445.5:c.*1381A>G	ENSP00000477672.1:n.*1381A>G
ENST00000624112.2:n.6003A>G
ENST00000679784.1:c.*2922A>G	ENSP00000506030.1:n.*2922A>G
ENST00000679852.1:c.1820A>G
ENST00000679958.1:c.*1503A>G	ENSP00000505246.1:n.*1503A>G
ENST00000679983.1:c.*1381A>G	ENSP00000505238.1:n.*1381A>G
ENST00000679992.1:c.*1381A>G	ENSP00000506585.1:n.*1381A>G
ENST00000680048.1:c.*3503A>G	ENSP00000505296.1:n.*3503A>G
ENST00000680125.1:c.*1381A>G	ENSP00000506424.1:n.*1381A>G
ENST00000680232.1:c.*1381A>G	ENSP00000506207.1:n.*1381A>G
ENST00000680318.1:c.*1381A>G	ENSP00000505057.1:n.*1381A>G
ENST00000680568.1:n.2238A>G
ENST00000680655.1:c.*2722A>G	ENSP00000506436.1:n.*2722A>G
ENST00000680876.1:n.6191A>G
ENST00000680878.1:n.6056A>G
ENST00000681633.1:n.5818A>G
ENST00000681926.1:c.*1381A>G	ENSP00000505850.1:n.*1381A>G
ENST00000265113.8:c.*1381A>G	ENSP00000265113.4:n.*1381A>G
ENST00000381918.3:c.*1381A>G	ENSP00000371343.3:n.*1381A>G
ENST00000612708.4:c.*1381A>G	ENSP00000483657.1:n.*1381A>G
ENST00000613445.4:c.*1381A>G	ENSP00000477672.1:n.*1381A>G
NM_001166695.2:c.*1381A>G	NP_001160167.1:n.*1381A>G
NM_001289939.1:c.*1381A>G	NP_001276868.1:n.*1381A>G
NM_001289940.1:c.*1381A>G	NP_001276869.1:n.*1381A>G
NM_004172.4:c.*1381A>G	NP_004163.3:n.*1381A>G
XM_005248342.1:c.*1381A>G	XP_005248399.1:n.*1381A>G
XM_011514084.1:c.*1381A>G	XP_011512386.1:n.*1381A>G
XM_005248342.3:c.*1381A>G	XP_005248399.1:n.*1381A>G
XM_011514084.2:c.*1381A>G	XP_011512386.1:n.*1381A>G
XM_024446181.1:c.*1381A>G	XP_024301949.1:n.*1381A>G
XM_024446182.1:c.*1381A>G	XP_024301950.1:n.*1381A>G
NM_004172.5:c.*1381A>G MANE Select	NP_004163.3:n.*1381A>G
NM_001166695.3:c.*1381A>G	NP_001160167.1:n.*1381A>G
NM_001289939.2:c.*1381A>G	NP_001276868.1:n.*1381A>G
NM_001289940.2:c.*1381A>G	NP_001276869.1:n.*1381A>G