Canonical Allele Identifier: CA2676110954
Gene: GLRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851386T>A , CM000667.2:g.151851386T>A GRCh38
NC_000005.9:g.151230947T>A , CM000667.1:g.151230947T>A GRCh37
NC_000005.8:g.151211140T>A NCBI36
NG_011764.1:g.78451A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.912+4A>T MANE Select ENSP00000274576.5:n.912+4A>T
ENST00000274576.8:c.912+4A>T ENSP00000274576.4:n.912+4A>T
ENST00000455880.2:c.912+4A>T ENSP00000411593.2:n.912+4A>T
ENST00000462581.6:c.*670+4A>T ENSP00000430595.1:n.*670+4A>T
ENST00000471351.2:n.1195+4A>T
NM_000171.3:c.912+4A>T NP_000162.2:n.912+4A>T
NM_001146040.1:c.912+4A>T NP_001139512.1:n.912+4A>T
NM_001292000.1:c.663+4A>T NP_001278929.1:n.663+4A>T
XM_005268412.2:c.912+4A>T XP_005268469.1:n.912+4A>T
NM_000171.4:c.912+4A>T MANE Select NP_000162.2:n.912+4A>T
NM_001146040.2:c.912+4A>T NP_001139512.1:n.912+4A>T
NM_001292000.2:c.663+4A>T NP_001278929.1:n.663+4A>T