Canonical Allele Identifier: CA3119811

Gene: GLRB

Linked Data

• dbSNP Id: rs554521200
• ExAC: 4:158058061 G / T
• gnomAD v2: 4-158058061-G-T
• gnomAD v3: 4-157136909-G-T
• gnomAD v4: 4-157136909-G-T
• MyVariant Identifiers: chr4:g.158058061G>T (hg19) ; chr4:g.157136909G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136909G>T , CM000666.2:g.157136909G>T	GRCh38
NC_000004.11:g.158058061G>T , CM000666.1:g.158058061G>T	GRCh37
NC_000004.10:g.158277511G>T	NCBI36
NG_015823.1:g.65785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.610+23G>T MANE Select	ENSP00000264428.4:n.610+23G>T
ENST00000264428.8:c.610+23G>T	ENSP00000264428.4:n.610+23G>T
ENST00000506411.5:c.*530+23G>T	ENSP00000422039.1:n.*530+23G>T
ENST00000509282.1:c.610+23G>T	ENSP00000427186.1:n.610+23G>T
ENST00000510970.1:n.417+23G>T
ENST00000512619.5:c.123-33523G>T	ENSP00000425433.1:n.123-33523G>T
ENST00000541722.5:c.610+23G>T	ENSP00000441873.1:n.610+23G>T
NM_000824.4:c.610+23G>T	NP_000815.1:n.610+23G>T
NM_001166060.1:c.610+23G>T	NP_001159532.1:n.610+23G>T
NM_001166061.1:c.610+23G>T	NP_001159533.1:n.610+23G>T
XM_011531876.1:c.316+23G>T	XP_011530178.1:n.316+23G>T
XM_017008034.1:c.316+23G>T	XP_016863523.1:n.316+23G>T
XM_017008035.2:c.610+23G>T	XP_016863524.1:n.610+23G>T
XR_001741207.2:n.791+23G>T
XR_002959723.1:n.791+23G>T
NM_000824.5:c.610+23G>T MANE Select	NP_000815.1:n.610+23G>T
NM_001166060.2:c.610+23G>T	NP_001159532.1:n.610+23G>T
NM_001166061.2:c.610+23G>T	NP_001159533.1:n.610+23G>T