Canonical Allele Identifier: CA361851270

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151208497C>G (hg19) ; chr5:g.151828936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151828936C>G , CM000667.2:g.151828936C>G	GRCh38
NC_000005.9:g.151208497C>G , CM000667.1:g.151208497C>G	GRCh37
NC_000005.8:g.151188690C>G	NCBI36
NG_011764.1:g.100901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1044G>C MANE Select	ENSP00000274576.5:p.Lys348Asn
ENST00000274576.8:c.1044G>C	ENSP00000274576.4:p.Lys348Asn
ENST00000455880.2:c.1044G>C	ENSP00000411593.2:p.Lys348Asn
ENST00000462581.6:c.*802G>C	ENSP00000430595.1:n.*802G>C
NM_000171.3:c.1044G>C	NP_000162.2:p.Lys348Asn
NM_001146040.1:c.1044G>C	NP_001139512.1:p.Lys348Asn
NM_001292000.1:c.795G>C	NP_001278929.1:p.Lys265Asn
NM_000171.4:c.1044G>C MANE Select	NP_000162.2:p.Lys348Asn
NM_001146040.2:c.1044G>C	NP_001139512.1:p.Lys348Asn
NM_001292000.2:c.795G>C	NP_001278929.1:p.Lys265Asn