Canonical Allele Identifier: CA358642920

Gene: GLRB

Linked Data

• dbSNP Id: rs1736423506
• MyVariant Identifiers: chr4:g.158058006A>C (hg19) ; chr4:g.157136854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136854A>C , CM000666.2:g.157136854A>C	GRCh38
NC_000004.11:g.158058006A>C , CM000666.1:g.158058006A>C	GRCh37
NC_000004.10:g.158277456A>C	NCBI36
NG_015823.1:g.65730A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.578A>C MANE Select	ENSP00000264428.4:p.Asp193Ala
ENST00000264428.8:c.578A>C	ENSP00000264428.4:p.Asp193Ala
ENST00000506411.5:c.*498A>C	ENSP00000422039.1:n.*498A>C
ENST00000509282.1:c.578A>C	ENSP00000427186.1:p.Asp193Ala
ENST00000510970.1:n.385A>C
ENST00000512619.5:c.123-33578A>C	ENSP00000425433.1:n.123-33578A>C
ENST00000541722.5:c.578A>C	ENSP00000441873.1:p.Asp193Ala
NM_000824.4:c.578A>C	NP_000815.1:p.Asp193Ala
NM_001166060.1:c.578A>C	NP_001159532.1:p.Asp193Ala
NM_001166061.1:c.578A>C	NP_001159533.1:p.Asp193Ala
XM_011531876.1:c.284A>C	XP_011530178.1:p.Asp95Ala
XM_017008034.1:c.284A>C	XP_016863523.1:p.Asp95Ala
XM_017008035.2:c.578A>C	XP_016863524.1:p.Asp193Ala
XR_001741207.2:n.759A>C
XR_002959723.1:n.759A>C
NM_000824.5:c.578A>C MANE Select	NP_000815.1:p.Asp193Ala
NM_001166060.2:c.578A>C	NP_001159532.1:p.Asp193Ala
NM_001166061.2:c.578A>C	NP_001159533.1:p.Asp193Ala