Canonical Allele Identifier: CA358642997

Gene: GLRB

Linked Data

• gnomAD v4: 4-157136870-G-C
• MyVariant Identifiers: chr4:g.158058022G>C (hg19) ; chr4:g.157136870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136870G>C , CM000666.2:g.157136870G>C	GRCh38
NC_000004.11:g.158058022G>C , CM000666.1:g.158058022G>C	GRCh37
NC_000004.10:g.158277472G>C	NCBI36
NG_015823.1:g.65746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.594G>C MANE Select	ENSP00000264428.4:p.Lys198Asn
ENST00000264428.8:c.594G>C	ENSP00000264428.4:p.Lys198Asn
ENST00000506411.5:c.*514G>C	ENSP00000422039.1:n.*514G>C
ENST00000509282.1:c.594G>C	ENSP00000427186.1:p.Lys198Asn
ENST00000510970.1:n.401G>C
ENST00000512619.5:c.123-33562G>C	ENSP00000425433.1:n.123-33562G>C
ENST00000541722.5:c.594G>C	ENSP00000441873.1:p.Lys198Asn
NM_000824.4:c.594G>C	NP_000815.1:p.Lys198Asn
NM_001166060.1:c.594G>C	NP_001159532.1:p.Lys198Asn
NM_001166061.1:c.594G>C	NP_001159533.1:p.Lys198Asn
XM_011531876.1:c.300G>C	XP_011530178.1:p.Lys100Asn
XM_017008034.1:c.300G>C	XP_016863523.1:p.Lys100Asn
XM_017008035.2:c.594G>C	XP_016863524.1:p.Lys198Asn
XR_001741207.2:n.775G>C
XR_002959723.1:n.775G>C
NM_000824.5:c.594G>C MANE Select	NP_000815.1:p.Lys198Asn
NM_001166060.2:c.594G>C	NP_001159532.1:p.Lys198Asn
NM_001166061.2:c.594G>C	NP_001159533.1:p.Lys198Asn