Canonical Allele Identifier: CA470666557

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87053387-G-A
• MyVariant Identifiers: chr10:g.88813144G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053387G>A , CM000672.2:g.87053387G>A	GRCh38
NC_000010.10:g.88813144G>A , CM000672.1:g.88813144G>A	GRCh37
NC_000010.9:g.88803124G>A	NCBI36
NG_013010.1:g.46633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3087C>T
ENST00000487058.2:n.1259C>T
ENST00000681987.1:n.1350C>T
ENST00000681988.1:c.1011C>T	ENSP00000507316.1:p.Asp337=
ENST00000682396.1:c.1503C>T	ENSP00000506764.1:n.1503C>T
ENST00000682507.1:c.1011C>T	ENSP00000508098.1:p.Asp337=
ENST00000682622.1:c.1792C>T	ENSP00000506732.1:n.1792C>T
ENST00000682833.1:c.1347C>T
ENST00000683022.1:c.1533C>T
ENST00000683256.1:c.1011C>T	ENSP00000507901.1:p.Asp337=
ENST00000683269.1:c.1011C>T	ENSP00000508107.1:p.Asp337=
ENST00000683647.1:n.4846C>T
ENST00000683649.1:n.362C>T
ENST00000683783.1:c.1011C>T	ENSP00000507881.1:p.Asp337=
ENST00000683813.1:n.1240C>T
ENST00000684032.1:c.1367C>T	ENSP00000506969.1:n.1367C>T
ENST00000684201.1:c.1236C>T	ENSP00000507887.1:p.Asp412=
ENST00000684338.1:c.1512C>T	ENSP00000507457.1:p.Asp504=
ENST00000684372.1:c.1011C>T	ENSP00000508244.1:p.Asp337=
ENST00000684434.1:c.983C>T
ENST00000684546.1:c.1011C>T	ENSP00000507729.1:p.Asp337=
ENST00000684665.1:n.476C>T
ENST00000684690.1:n.1739C>T
ENST00000684699.1:n.4091C>T
ENST00000277865.5:c.1512C>T MANE Select	ENSP00000277865.4:p.Asp504=
ENST00000277865.4:c.1512C>T	ENSP00000277865.4:p.Asp504=
NM_005271.3:c.1512C>T	NP_005262.1:p.Asp504=
XM_011539668.1:c.1011C>T	XP_011537970.1:p.Asp337=
XM_011539669.1:c.1011C>T	XP_011537971.1:p.Asp337=
NM_001318900.1:c.1113C>T	NP_001305829.1:p.Asp371=
NM_001318901.1:c.1011C>T	NP_001305830.1:p.Asp337=
NM_001318902.1:c.1011C>T	NP_001305831.1:p.Asp337=
NM_001318904.1:c.1011C>T	NP_001305833.1:p.Asp337=
NM_001318905.1:c.1011C>T	NP_001305834.1:p.Asp337=
NM_001318906.1:c.1011C>T	NP_001305835.1:p.Asp337=
NM_005271.4:c.1512C>T	NP_005262.1:p.Asp504=
NM_005271.5:c.1512C>T MANE Select	NP_005262.1:p.Asp504=
NM_001318904.2:c.1011C>T	NP_001305833.1:p.Asp337=
NM_001318905.2:c.1011C>T	NP_001305834.1:p.Asp337=
NM_001318906.2:c.1011C>T	NP_001305835.1:p.Asp337=