Canonical Allele Identifier: CA109163930

Gene: GLRB

Linked Data

• dbSNP Id: rs569240499
• gnomAD v3: 4-157136837-G-C
• gnomAD v4: 4-157136837-G-C
• MyVariant Identifiers: chr4:g.158057989G>C (hg19) ; chr4:g.157136837G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136837G>C , CM000666.2:g.157136837G>C	GRCh38
NC_000004.11:g.158057989G>C , CM000666.1:g.158057989G>C	GRCh37
NC_000004.10:g.158277439G>C	NCBI36
NG_015823.1:g.65713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.561G>C MANE Select	ENSP00000264428.4:p.Leu187Phe
ENST00000264428.8:c.561G>C	ENSP00000264428.4:p.Leu187Phe
ENST00000506411.5:c.*481G>C	ENSP00000422039.1:n.*481G>C
ENST00000509282.1:c.561G>C	ENSP00000427186.1:p.Leu187Phe
ENST00000510970.1:n.368G>C
ENST00000512619.5:c.123-33595G>C	ENSP00000425433.1:n.123-33595G>C
ENST00000541722.5:c.561G>C	ENSP00000441873.1:p.Leu187Phe
NM_000824.4:c.561G>C	NP_000815.1:p.Leu187Phe
NM_001166060.1:c.561G>C	NP_001159532.1:p.Leu187Phe
NM_001166061.1:c.561G>C	NP_001159533.1:p.Leu187Phe
XM_011531876.1:c.267G>C	XP_011530178.1:p.Leu89Phe
XM_017008034.1:c.267G>C	XP_016863523.1:p.Leu89Phe
XM_017008035.2:c.561G>C	XP_016863524.1:p.Leu187Phe
XR_001741207.2:n.742G>C
XR_002959723.1:n.742G>C
NM_000824.5:c.561G>C MANE Select	NP_000815.1:p.Leu187Phe
NM_001166060.2:c.561G>C	NP_001159532.1:p.Leu187Phe
NM_001166061.2:c.561G>C	NP_001159533.1:p.Leu187Phe