Canonical Allele Identifier: CA358642888

Gene: GLRB

Linked Data

• gnomAD v4: 4-157136846-T-A
• MyVariant Identifiers: chr4:g.158057998T>A (hg19) ; chr4:g.157136846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136846T>A , CM000666.2:g.157136846T>A	GRCh38
NC_000004.11:g.158057998T>A , CM000666.1:g.158057998T>A	GRCh37
NC_000004.10:g.158277448T>A	NCBI36
NG_015823.1:g.65722T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.570T>A MANE Select	ENSP00000264428.4:p.Phe190Leu
ENST00000264428.8:c.570T>A	ENSP00000264428.4:p.Phe190Leu
ENST00000506411.5:c.*490T>A	ENSP00000422039.1:n.*490T>A
ENST00000509282.1:c.570T>A	ENSP00000427186.1:p.Phe190Leu
ENST00000510970.1:n.377T>A
ENST00000512619.5:c.123-33586T>A	ENSP00000425433.1:n.123-33586T>A
ENST00000541722.5:c.570T>A	ENSP00000441873.1:p.Phe190Leu
NM_000824.4:c.570T>A	NP_000815.1:p.Phe190Leu
NM_001166060.1:c.570T>A	NP_001159532.1:p.Phe190Leu
NM_001166061.1:c.570T>A	NP_001159533.1:p.Phe190Leu
XM_011531876.1:c.276T>A	XP_011530178.1:p.Phe92Leu
XM_017008034.1:c.276T>A	XP_016863523.1:p.Phe92Leu
XM_017008035.2:c.570T>A	XP_016863524.1:p.Phe190Leu
XR_001741207.2:n.751T>A
XR_002959723.1:n.751T>A
NM_000824.5:c.570T>A MANE Select	NP_000815.1:p.Phe190Leu
NM_001166060.2:c.570T>A	NP_001159532.1:p.Phe190Leu
NM_001166061.2:c.570T>A	NP_001159533.1:p.Phe190Leu