Canonical Allele Identifier: CA377464738

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 1685333
• ClinVar RCV Id: RCV002249060
• dbSNP Id: rs121909734
• MyVariant Identifiers: chr10:g.88813160C>G (hg19) ; chr10:g.87053403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053403C>G , CM000672.2:g.87053403C>G	GRCh38
NC_000010.10:g.88813160C>G , CM000672.1:g.88813160C>G	GRCh37
NC_000010.9:g.88803140C>G	NCBI36
NG_013010.1:g.46617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3071G>C
ENST00000487058.2:n.1243G>C
ENST00000681987.1:n.1334G>C
ENST00000681988.1:c.995G>C	ENSP00000507316.1:p.Gly332Ala
ENST00000682396.1:c.1487G>C	ENSP00000506764.1:n.1487G>C
ENST00000682507.1:c.995G>C	ENSP00000508098.1:p.Gly332Ala
ENST00000682622.1:c.1776G>C	ENSP00000506732.1:n.1776G>C
ENST00000682833.1:c.1331G>C
ENST00000683022.1:c.1517G>C
ENST00000683256.1:c.995G>C	ENSP00000507901.1:p.Gly332Ala
ENST00000683269.1:c.995G>C	ENSP00000508107.1:p.Gly332Ala
ENST00000683647.1:n.4830G>C
ENST00000683649.1:n.346G>C
ENST00000683783.1:c.995G>C	ENSP00000507881.1:p.Gly332Ala
ENST00000683813.1:n.1224G>C
ENST00000684032.1:c.1351G>C	ENSP00000506969.1:n.1351G>C
ENST00000684201.1:c.1220G>C	ENSP00000507887.1:p.Gly407Ala
ENST00000684338.1:c.1496G>C	ENSP00000507457.1:p.Gly499Ala
ENST00000684372.1:c.995G>C	ENSP00000508244.1:p.Gly332Ala
ENST00000684434.1:c.967G>C
ENST00000684546.1:c.995G>C	ENSP00000507729.1:p.Gly332Ala
ENST00000684665.1:n.460G>C
ENST00000684690.1:n.1723G>C
ENST00000684699.1:n.4075G>C
ENST00000277865.5:c.1496G>C MANE Select	ENSP00000277865.4:p.Gly499Ala
ENST00000277865.4:c.1496G>C	ENSP00000277865.4:p.Gly499Ala
NM_005271.3:c.1496G>C	NP_005262.1:p.Gly499Ala
XM_011539668.1:c.995G>C	XP_011537970.1:p.Gly332Ala
XM_011539669.1:c.995G>C	XP_011537971.1:p.Gly332Ala
NM_001318900.1:c.1097G>C	NP_001305829.1:p.Gly366Ala
NM_001318901.1:c.995G>C	NP_001305830.1:p.Gly332Ala
NM_001318902.1:c.995G>C	NP_001305831.1:p.Gly332Ala
NM_001318904.1:c.995G>C	NP_001305833.1:p.Gly332Ala
NM_001318905.1:c.995G>C	NP_001305834.1:p.Gly332Ala
NM_001318906.1:c.995G>C	NP_001305835.1:p.Gly332Ala
NM_005271.4:c.1496G>C	NP_005262.1:p.Gly499Ala
NM_005271.5:c.1496G>C MANE Select	NP_005262.1:p.Gly499Ala
NM_001318904.2:c.995G>C	NP_001305833.1:p.Gly332Ala
NM_001318905.2:c.995G>C	NP_001305834.1:p.Gly332Ala
NM_001318906.2:c.995G>C	NP_001305835.1:p.Gly332Ala