Canonical Allele Identifier: CA377466856

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87060709-G-C
• MyVariant Identifiers: chr10:g.88820466G>C (hg19) ; chr10:g.87060709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060709G>C , CM000672.2:g.87060709G>C	GRCh38
NC_000010.10:g.88820466G>C , CM000672.1:g.88820466G>C	GRCh37
NC_000010.9:g.88810446G>C	NCBI36
NG_013010.1:g.39311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2751C>G
ENST00000487058.2:n.477C>G
ENST00000681987.1:n.1014C>G
ENST00000681988.1:c.675C>G	ENSP00000507316.1:p.Asn225Lys
ENST00000682396.1:c.1167C>G	ENSP00000506764.1:n.1167C>G
ENST00000682507.1:c.675C>G	ENSP00000508098.1:p.Asn225Lys
ENST00000682622.1:c.1456C>G	ENSP00000506732.1:n.1456C>G
ENST00000682833.1:c.1011C>G
ENST00000683022.1:c.1197C>G
ENST00000683256.1:c.675C>G	ENSP00000507901.1:p.Asn225Lys
ENST00000683269.1:c.675C>G	ENSP00000508107.1:p.Asn225Lys
ENST00000683647.1:n.4510C>G
ENST00000683783.1:c.675C>G	ENSP00000507881.1:p.Asn225Lys
ENST00000683813.1:n.904C>G
ENST00000684032.1:c.1031C>G	ENSP00000506969.1:n.1031C>G
ENST00000684201.1:c.922-468C>G	ENSP00000507887.1:n.922-468C>G
ENST00000684338.1:c.1176C>G	ENSP00000507457.1:p.Asn392Lys
ENST00000684372.1:c.675C>G	ENSP00000508244.1:p.Asn225Lys
ENST00000684434.1:c.647C>G
ENST00000684546.1:c.675C>G	ENSP00000507729.1:p.Asn225Lys
ENST00000684690.1:n.957C>G
ENST00000684699.1:n.3309C>G
ENST00000277865.5:c.1176C>G MANE Select	ENSP00000277865.4:p.Asn392Lys
ENST00000277865.4:c.1176C>G	ENSP00000277865.4:p.Asn392Lys
ENST00000465164.1:n.255C>G
NM_005271.3:c.1176C>G	NP_005262.1:p.Asn392Lys
XM_011539668.1:c.675C>G	XP_011537970.1:p.Asn225Lys
XM_011539669.1:c.675C>G	XP_011537971.1:p.Asn225Lys
NM_001318900.1:c.777C>G	NP_001305829.1:p.Asn259Lys
NM_001318901.1:c.675C>G	NP_001305830.1:p.Asn225Lys
NM_001318902.1:c.675C>G	NP_001305831.1:p.Asn225Lys
NM_001318904.1:c.675C>G	NP_001305833.1:p.Asn225Lys
NM_001318905.1:c.675C>G	NP_001305834.1:p.Asn225Lys
NM_001318906.1:c.675C>G	NP_001305835.1:p.Asn225Lys
NM_005271.4:c.1176C>G	NP_005262.1:p.Asn392Lys
NM_005271.5:c.1176C>G MANE Select	NP_005262.1:p.Asn392Lys
NM_001318904.2:c.675C>G	NP_001305833.1:p.Asn225Lys
NM_001318905.2:c.675C>G	NP_001305834.1:p.Asn225Lys
NM_001318906.2:c.675C>G	NP_001305835.1:p.Asn225Lys