Canonical Allele Identifier: CA1539423012
Community Standard Title: NM_004172.5(SLC1A3):c.1496G= (p.Arg499=)
Gene: SLC1A3 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004172.5:c.1496G= MANE Select NP_004163.3:p.Arg499=
ENST00000265113.9:c.1496G= MANE Select ENSP00000265113.4:p.Arg499=
NM_001166695.2:c.1361G= NP_001160167.1:p.Arg454=
NM_001166695.3:c.1361G= NP_001160167.1:p.Arg454=
NM_001289939.1:c.1358G= NP_001276868.1:p.Arg453=
NM_001289939.2:c.1358G= NP_001276868.1:p.Arg453=
NM_001289940.1:c.1160G= NP_001276869.1:p.Arg387=
NM_001289940.2:c.1160G= NP_001276869.1:p.Arg387=
NM_004172.4:c.1496G= NP_004163.3:p.Arg499=
ENST00000265113.8:c.1496G= ENSP00000265113.4:p.Arg499=
ENST00000381918.3:c.1361G= ENSP00000371343.3:p.Arg454=
ENST00000381918.4:c.1496G= ENSP00000371343.4:p.Arg499=
ENST00000506178.1:n.450G=
ENST00000612708.4:c.1160G= ENSP00000483657.1:p.Arg387=
ENST00000612708.5:c.1160G= ENSP00000483657.1:p.Arg387=
ENST00000613445.4:c.1358G= ENSP00000477672.1:p.Arg453=
ENST00000613445.5:c.1358G= ENSP00000477672.1:p.Arg453=
ENST00000624112.2:n.4489G=
ENST00000679784.1:c.*1408G= ENSP00000506030.1:n.*1408G=
ENST00000679852.1:c.306G=
ENST00000679958.1:c.391G= ENSP00000505246.1:p.Asp131=
ENST00000679983.1:c.1496G= ENSP00000505238.1:p.Arg499=
ENST00000679992.1:c.1496G= ENSP00000506585.1:p.Arg499=
ENST00000680048.1:c.*1989G= ENSP00000505296.1:n.*1989G=
ENST00000680125.1:c.1361G= ENSP00000506424.1:p.Arg454=
ENST00000680232.1:c.1637G= ENSP00000506207.1:p.Arg546=
ENST00000680318.1:c.1496G= ENSP00000505057.1:p.Arg499=
ENST00000680568.1:n.724G=
ENST00000680655.1:c.*1208G= ENSP00000506436.1:n.*1208G=
ENST00000680876.1:n.4677G=
ENST00000680878.1:n.4542G=
ENST00000681440.1:c.250G=
ENST00000681633.1:n.4304G=
ENST00000681909.1:c.1358G= ENSP00000506599.1:p.Arg453=
ENST00000681926.1:c.1361G= ENSP00000505850.1:p.Arg454=
XM_005248342.1:c.1496G= XP_005248399.1:p.Arg499=
XM_005248342.3:c.1496G= XP_005248399.1:p.Arg499=
XM_011514084.1:c.1175G= XP_011512386.1:p.Arg392=
XM_011514084.2:c.1175G= XP_011512386.1:p.Arg392=
XM_024446181.1:c.1496G= XP_024301949.1:p.Arg499=
XM_024446182.1:c.1361G= XP_024301950.1:p.Arg454=