Canonical Allele Identifier: CA2932115
Community Standard Title: NM_005612.5(REST):c.527A>G (p.His176Arg)
Gene: REST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56911165A>G , CM000666.2:g.56911165A>G GRCh38
NC_000004.11:g.57777331A>G , CM000666.1:g.57777331A>G GRCh37
NC_000004.10:g.57472088A>G NCBI36
NG_029447.1:g.8290A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005612.5:c.527A>G MANE Select NP_005603.3:p.His176Arg
ENST00000309042.12:c.527A>G MANE Select ENSP00000311816.7:p.His176Arg
NM_001193508.1:c.527A>G NP_001180437.1:p.His176Arg
NM_001363453.1:c.527A>G NP_001350382.1:p.His176Arg
NM_001363453.2:c.527A>G NP_001350382.1:p.His176Arg
NM_005612.4:c.527A>G NP_005603.3:p.His176Arg
ENST00000309042.11:c.527A>G ENSP00000311816.7:p.His176Arg
ENST00000514063.2:c.527A>G ENSP00000501649.1:p.His176Arg
ENST00000611211.1:c.527A>G ENSP00000479151.1:p.His176Arg
ENST00000611211.2:c.527A>G ENSP00000479151.2:p.His176Arg
ENST00000612429.4:c.527A>G ENSP00000484206.1:p.His176Arg
ENST00000616975.4:c.527A>G ENSP00000484058.1:p.His176Arg
ENST00000616975.5:c.527A>G ENSP00000484058.1:p.His176Arg
ENST00000619101.4:c.527A>G ENSP00000484836.1:p.His176Arg
ENST00000619101.5:c.527A>G ENSP00000484836.2:p.His176Arg
ENST00000622863.4:c.302-171A>G ENSP00000481650.1:n.302-171A>G
ENST00000638187.2:c.527A>G ENSP00000492006.2:p.His176Arg
ENST00000640168.2:c.527A>G ENSP00000490969.1:p.His176Arg
ENST00000640343.2:c.527A>G ENSP00000492813.1:p.His176Arg
ENST00000675105.1:c.527A>G ENSP00000502313.1:p.His176Arg
ENST00000675341.1:c.451+76A>G ENSP00000502488.1:n.451+76A>G
XM_005265760.2:c.-175+2952A>G XP_005265817.1:n.-175+2952A>G
XM_011534401.1:c.527A>G XP_011532703.1:p.His176Arg
XM_017008527.1:c.527A>G XP_016864016.1:p.His176Arg