Canonical Allele Identifier: CA361840235
Community Standard Title: NM_000171.4(GLRA1):c.560-1G>C
Gene: GLRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151855178C>G , CM000667.2:g.151855178C>G GRCh38
NC_000005.9:g.151234739C>G , CM000667.1:g.151234739C>G GRCh37
NC_000005.8:g.151214932C>G NCBI36
NG_011764.1:g.74659G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000171.4:c.560-1G>C MANE Select NP_000162.2:n.560-1G>C
ENST00000274576.9:c.560-1G>C MANE Select ENSP00000274576.5:n.560-1G>C
NM_000171.3:c.560-1G>C NP_000162.2:n.560-1G>C
NM_001146040.1:c.560-1G>C NP_001139512.1:n.560-1G>C
NM_001146040.2:c.560-1G>C NP_001139512.1:n.560-1G>C
NM_001292000.1:c.311-1G>C NP_001278929.1:n.311-1G>C
NM_001292000.2:c.311-1G>C NP_001278929.1:n.311-1G>C
ENST00000274576.8:c.560-1G>C ENSP00000274576.4:n.560-1G>C
ENST00000455880.2:c.560-1G>C ENSP00000411593.2:n.560-1G>C
ENST00000462581.6:c.*318-1G>C ENSP00000430595.1:n.*318-1G>C
ENST00000471351.2:n.843-1G>C
XM_005268412.2:c.560-1G>C XP_005268469.1:n.560-1G>C
XR_002956230.1:n.41+1790C>G