Canonical Allele Identifier: CA3235574
Community Standard Title: NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile)
Gene: SLC1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36679687G>T , CM000667.2:g.36679687G>T GRCh38
NC_000005.9:g.36679789G>T , CM000667.1:g.36679789G>T GRCh37
NC_000005.8:g.36715546G>T NCBI36
NG_015890.1:g.78333G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004172.5:c.921G>T MANE Select NP_004163.3:p.Met307Ile
ENST00000265113.9:c.921G>T MANE Select ENSP00000265113.4:p.Met307Ile
NM_001166695.2:c.921G>T NP_001160167.1:p.Met307Ile
NM_001166695.3:c.921G>T NP_001160167.1:p.Met307Ile
NM_001289939.1:c.783G>T NP_001276868.1:p.Met261Ile
NM_001289939.2:c.783G>T NP_001276868.1:p.Met261Ile
NM_001289940.1:c.585G>T NP_001276869.1:p.Met195Ile
NM_001289940.2:c.585G>T NP_001276869.1:p.Met195Ile
NM_004172.4:c.921G>T NP_004163.3:p.Met307Ile
ENST00000265113.8:c.921G>T ENSP00000265113.4:p.Met307Ile
ENST00000381918.3:c.921G>T ENSP00000371343.3:p.Met307Ile
ENST00000381918.4:c.921G>T ENSP00000371343.4:p.Met307Ile
ENST00000612708.4:c.585G>T ENSP00000483657.1:p.Met195Ile
ENST00000612708.5:c.585G>T ENSP00000483657.1:p.Met195Ile
ENST00000613445.4:c.783G>T ENSP00000477672.1:p.Met261Ile
ENST00000613445.5:c.783G>T ENSP00000477672.1:p.Met261Ile
ENST00000624112.2:n.3914G>T
ENST00000679384.1:n.61G>T
ENST00000679487.1:c.44-68G>T
ENST00000679784.1:c.*833G>T ENSP00000506030.1:n.*833G>T
ENST00000679852.1:c.61G>T
ENST00000679958.1:c.320-6378G>T ENSP00000505246.1:n.320-6378G>T
ENST00000679983.1:c.921G>T ENSP00000505238.1:p.Met307Ile
ENST00000679992.1:c.921G>T ENSP00000506585.1:p.Met307Ile
ENST00000680048.1:c.*1414G>T ENSP00000505296.1:n.*1414G>T
ENST00000680064.1:n.3729G>T
ENST00000680125.1:c.921G>T ENSP00000506424.1:p.Met307Ile
ENST00000680232.1:c.1062G>T ENSP00000506207.1:p.Met354Ile
ENST00000680318.1:c.921G>T ENSP00000505057.1:p.Met307Ile
ENST00000680369.1:c.61G>T
ENST00000680655.1:c.*633G>T ENSP00000506436.1:n.*633G>T
ENST00000680835.1:c.104G>T
ENST00000680876.1:n.4102G>T
ENST00000680878.1:n.4102G>T
ENST00000680890.1:c.294-708G>T ENSP00000505580.1:n.294-708G>T
ENST00000681440.1:c.44-4177G>T
ENST00000681480.1:c.294-68G>T ENSP00000506380.1:n.294-68G>T
ENST00000681633.1:n.3729G>T
ENST00000681701.1:c.559G>T
ENST00000681814.1:n.1036G>T
ENST00000681854.1:c.340+61G>T ENSP00000504899.1:n.340+61G>T
ENST00000681909.1:c.783G>T ENSP00000506599.1:p.Met261Ile
ENST00000681926.1:c.921G>T ENSP00000505850.1:p.Met307Ile
XM_005248342.1:c.921G>T XP_005248399.1:p.Met307Ile
XM_005248342.3:c.921G>T XP_005248399.1:p.Met307Ile
XM_011514084.1:c.600G>T XP_011512386.1:p.Met200Ile
XM_011514084.2:c.600G>T XP_011512386.1:p.Met200Ile
XM_024446181.1:c.921G>T XP_024301949.1:p.Met307Ile
XM_024446182.1:c.921G>T XP_024301950.1:p.Met307Ile