Canonical Allele Identifier: CA447224513
Gene: GLRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.151230963T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851402T>C , CM000667.2:g.151851402T>C GRCh38
NC_000005.9:g.151230963T>C , CM000667.1:g.151230963T>C GRCh37
NC_000005.8:g.151211156T>C NCBI36
NG_011764.1:g.78435A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.900A>G MANE Select ENSP00000274576.5:p.Ala300=
ENST00000274576.8:c.900A>G ENSP00000274576.4:p.Ala300=
ENST00000455880.2:c.900A>G ENSP00000411593.2:p.Ala300=
ENST00000462581.6:c.*658A>G ENSP00000430595.1:n.*658A>G
ENST00000471351.2:n.1183A>G
NM_000171.3:c.900A>G NP_000162.2:p.Ala300=
NM_001146040.1:c.900A>G NP_001139512.1:p.Ala300=
NM_001292000.1:c.651A>G NP_001278929.1:p.Ala217=
XM_005268412.2:c.900A>G XP_005268469.1:p.Ala300=
NM_000171.4:c.900A>G MANE Select NP_000162.2:p.Ala300=
NM_001146040.2:c.900A>G NP_001139512.1:p.Ala300=
NM_001292000.2:c.651A>G NP_001278929.1:p.Ala217=