Canonical Allele Identifier: CA12050379
Community Standard Title: NM_004172.5(SLC1A3):c.1094+163A>G
Gene: SLC1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36680023A>G , CM000667.2:g.36680023A>G GRCh38
NC_000005.9:g.36680125A>G , CM000667.1:g.36680125A>G GRCh37
NC_000005.8:g.36715882A>G NCBI36
NG_015890.1:g.78669A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004172.5:c.1094+163A>G MANE Select NP_004163.3:n.1094+163A>G
ENST00000265113.9:c.1094+163A>G MANE Select ENSP00000265113.4:n.1094+163A>G
NM_001166695.2:c.1094+163A>G NP_001160167.1:n.1094+163A>G
NM_001166695.3:c.1094+163A>G NP_001160167.1:n.1094+163A>G
NM_001289939.1:c.956+163A>G NP_001276868.1:n.956+163A>G
NM_001289939.2:c.956+163A>G NP_001276868.1:n.956+163A>G
NM_001289940.1:c.758+163A>G NP_001276869.1:n.758+163A>G
NM_001289940.2:c.758+163A>G NP_001276869.1:n.758+163A>G
NM_004172.4:c.1094+163A>G NP_004163.3:n.1094+163A>G
ENST00000265113.8:c.1094+163A>G ENSP00000265113.4:n.1094+163A>G
ENST00000381918.3:c.1094+163A>G ENSP00000371343.3:n.1094+163A>G
ENST00000381918.4:c.1094+163A>G ENSP00000371343.4:n.1094+163A>G
ENST00000612708.4:c.758+163A>G ENSP00000483657.1:n.758+163A>G
ENST00000612708.5:c.758+163A>G ENSP00000483657.1:n.758+163A>G
ENST00000613445.4:c.956+163A>G ENSP00000477672.1:n.956+163A>G
ENST00000613445.5:c.956+163A>G ENSP00000477672.1:n.956+163A>G
ENST00000624112.2:n.4087+163A>G
ENST00000679384.1:n.235-78A>G
ENST00000679487.1:c.149+163A>G
ENST00000679784.1:c.*1006+163A>G ENSP00000506030.1:n.*1006+163A>G
ENST00000679852.1:c.234+163A>G
ENST00000679958.1:c.320-6042A>G ENSP00000505246.1:n.320-6042A>G
ENST00000679983.1:c.1094+163A>G ENSP00000505238.1:n.1094+163A>G
ENST00000679992.1:c.1094+163A>G ENSP00000506585.1:n.1094+163A>G
ENST00000680048.1:c.*1587+163A>G ENSP00000505296.1:n.*1587+163A>G
ENST00000680064.1:n.3902+163A>G
ENST00000680125.1:c.1094+163A>G ENSP00000506424.1:n.1094+163A>G
ENST00000680232.1:c.1235+163A>G ENSP00000506207.1:n.1235+163A>G
ENST00000680318.1:c.1094+163A>G ENSP00000505057.1:n.1094+163A>G
ENST00000680369.1:c.234+163A>G
ENST00000680655.1:c.*806+163A>G ENSP00000506436.1:n.*806+163A>G
ENST00000680835.1:c.277+163A>G
ENST00000680876.1:n.4275+163A>G
ENST00000680878.1:n.4275+163A>G
ENST00000680890.1:c.294-372A>G ENSP00000505580.1:n.294-372A>G
ENST00000681440.1:c.44-3841A>G
ENST00000681480.1:c.399+163A>G ENSP00000506380.1:n.399+163A>G
ENST00000681633.1:n.3902+163A>G
ENST00000681814.1:n.1209+163A>G
ENST00000681909.1:c.956+163A>G ENSP00000506599.1:n.956+163A>G
ENST00000681926.1:c.1094+163A>G ENSP00000505850.1:n.1094+163A>G
XM_005248342.1:c.1094+163A>G XP_005248399.1:n.1094+163A>G
XM_005248342.3:c.1094+163A>G XP_005248399.1:n.1094+163A>G
XM_011514084.1:c.773+163A>G XP_011512386.1:n.773+163A>G
XM_011514084.2:c.773+163A>G XP_011512386.1:n.773+163A>G
XM_024446181.1:c.1094+163A>G XP_024301949.1:n.1094+163A>G
XM_024446182.1:c.1094+163A>G XP_024301950.1:n.1094+163A>G