Canonical Allele Identifier: CA358642825

Gene: GLRB

Linked Data

• gnomAD v4: 4-157136817-C-A
• MyVariant Identifiers: chr4:g.158057969C>A (hg19) ; chr4:g.157136817C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136817C>A , CM000666.2:g.157136817C>A	GRCh38
NC_000004.11:g.158057969C>A , CM000666.1:g.158057969C>A	GRCh37
NC_000004.10:g.158277419C>A	NCBI36
NG_015823.1:g.65693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.541C>A MANE Select	ENSP00000264428.4:p.Leu181Ile
ENST00000264428.8:c.541C>A	ENSP00000264428.4:p.Leu181Ile
ENST00000506411.5:c.*461C>A	ENSP00000422039.1:n.*461C>A
ENST00000509282.1:c.541C>A	ENSP00000427186.1:p.Leu181Ile
ENST00000510970.1:n.348C>A
ENST00000512619.5:c.123-33615C>A	ENSP00000425433.1:n.123-33615C>A
ENST00000541722.5:c.541C>A	ENSP00000441873.1:p.Leu181Ile
NM_000824.4:c.541C>A	NP_000815.1:p.Leu181Ile
NM_001166060.1:c.541C>A	NP_001159532.1:p.Leu181Ile
NM_001166061.1:c.541C>A	NP_001159533.1:p.Leu181Ile
XM_011531876.1:c.247C>A	XP_011530178.1:p.Leu83Ile
XM_017008034.1:c.247C>A	XP_016863523.1:p.Leu83Ile
XM_017008035.2:c.541C>A	XP_016863524.1:p.Leu181Ile
XR_001741207.2:n.722C>A
XR_002959723.1:n.722C>A
NM_000824.5:c.541C>A MANE Select	NP_000815.1:p.Leu181Ile
NM_001166060.2:c.541C>A	NP_001159532.1:p.Leu181Ile
NM_001166061.2:c.541C>A	NP_001159533.1:p.Leu181Ile