Canonical Allele Identifier: CA3235696

Gene: SLC1A3

Linked Data

• ClinVar Variation Id: 242994
• ClinVar RCV Id: RCV000234998 ; RCV000500491 ; RCV000727383
• dbSNP Id: rs138085358
• ExAC: 5:36686238 G / A
• gnomAD v2: 5-36686238-G-A
• gnomAD v3: 5-36686136-G-A
• gnomAD v4: 5-36686136-G-A
• MyVariant Identifiers: chr5:g.36686238G>A (hg19) ; chr5:g.36686136G>A (hg38)
• PubMed: PMID:25497598

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36686136G>A , CM000667.2:g.36686136G>A	GRCh38
NC_000005.9:g.36686238G>A , CM000667.1:g.36686238G>A	GRCh37
NC_000005.8:g.36721995G>A	NCBI36
NG_015890.1:g.84782G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265113.9:c.1496G>A MANE Select	ENSP00000265113.4:p.Arg499Gln
ENST00000381918.4:c.1496G>A	ENSP00000371343.4:p.Arg499Gln
ENST00000612708.5:c.1160G>A	ENSP00000483657.1:p.Arg387Gln
ENST00000613445.5:c.1358G>A	ENSP00000477672.1:p.Arg453Gln
ENST00000624112.2:n.4489G>A
ENST00000679784.1:c.*1408G>A	ENSP00000506030.1:n.*1408G>A
ENST00000679852.1:c.306G>A
ENST00000679958.1:c.391G>A	ENSP00000505246.1:p.Asp131Asn
ENST00000679983.1:c.1496G>A	ENSP00000505238.1:p.Arg499Gln
ENST00000679992.1:c.1496G>A	ENSP00000506585.1:p.Arg499Gln
ENST00000680048.1:c.*1989G>A	ENSP00000505296.1:n.*1989G>A
ENST00000680125.1:c.1361G>A	ENSP00000506424.1:p.Arg454Gln
ENST00000680232.1:c.1637G>A	ENSP00000506207.1:p.Arg546Gln
ENST00000680318.1:c.1496G>A	ENSP00000505057.1:p.Arg499Gln
ENST00000680568.1:n.724G>A
ENST00000680655.1:c.*1208G>A	ENSP00000506436.1:n.*1208G>A
ENST00000680876.1:n.4677G>A
ENST00000680878.1:n.4542G>A
ENST00000681440.1:c.250G>A
ENST00000681633.1:n.4304G>A
ENST00000681909.1:c.1358G>A	ENSP00000506599.1:p.Arg453Gln
ENST00000681926.1:c.1361G>A	ENSP00000505850.1:p.Arg454Gln
ENST00000265113.8:c.1496G>A	ENSP00000265113.4:p.Arg499Gln
ENST00000381918.3:c.1361G>A	ENSP00000371343.3:p.Arg454Gln
ENST00000506178.1:n.450G>A
ENST00000612708.4:c.1160G>A	ENSP00000483657.1:p.Arg387Gln
ENST00000613445.4:c.1358G>A	ENSP00000477672.1:p.Arg453Gln
NM_001166695.2:c.1361G>A	NP_001160167.1:p.Arg454Gln
NM_001289939.1:c.1358G>A	NP_001276868.1:p.Arg453Gln
NM_001289940.1:c.1160G>A	NP_001276869.1:p.Arg387Gln
NM_004172.4:c.1496G>A	NP_004163.3:p.Arg499Gln
XM_005248342.1:c.1496G>A	XP_005248399.1:p.Arg499Gln
XM_011514084.1:c.1175G>A	XP_011512386.1:p.Arg392Gln
XM_005248342.3:c.1496G>A	XP_005248399.1:p.Arg499Gln
XM_011514084.2:c.1175G>A	XP_011512386.1:p.Arg392Gln
XM_024446181.1:c.1496G>A	XP_024301949.1:p.Arg499Gln
XM_024446182.1:c.1361G>A	XP_024301950.1:p.Arg454Gln
NM_004172.5:c.1496G>A MANE Select	NP_004163.3:p.Arg499Gln
NM_001166695.3:c.1361G>A	NP_001160167.1:p.Arg454Gln
NM_001289939.2:c.1358G>A	NP_001276868.1:p.Arg453Gln
NM_001289940.2:c.1160G>A	NP_001276869.1:p.Arg387Gln