Canonical Allele Identifier: CA377464616

Gene: GLUD1

Linked Data

• MyVariant Identifiers: chr10:g.88813142A>G (hg19) ; chr10:g.87053385A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053385A>G , CM000672.2:g.87053385A>G	GRCh38
NC_000010.10:g.88813142A>G , CM000672.1:g.88813142A>G	GRCh37
NC_000010.9:g.88803122A>G	NCBI36
NG_013010.1:g.46635T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.3089T>C
ENST00000487058.2:n.1261T>C
ENST00000681987.1:n.1352T>C
ENST00000681988.1:c.1013T>C	ENSP00000507316.1:p.Ile338Thr
ENST00000682396.1:c.1505T>C	ENSP00000506764.1:n.1505T>C
ENST00000682507.1:c.1013T>C	ENSP00000508098.1:p.Ile338Thr
ENST00000682622.1:c.1794T>C	ENSP00000506732.1:n.1794T>C
ENST00000682833.1:c.1349T>C
ENST00000683022.1:c.1535T>C
ENST00000683256.1:c.1013T>C	ENSP00000507901.1:p.Ile338Thr
ENST00000683269.1:c.1013T>C	ENSP00000508107.1:p.Ile338Thr
ENST00000683647.1:n.4848T>C
ENST00000683649.1:n.364T>C
ENST00000683783.1:c.1013T>C	ENSP00000507881.1:p.Ile338Thr
ENST00000683813.1:n.1242T>C
ENST00000684032.1:c.1369T>C	ENSP00000506969.1:n.1369T>C
ENST00000684201.1:c.1238T>C	ENSP00000507887.1:p.Ile413Thr
ENST00000684338.1:c.1514T>C	ENSP00000507457.1:p.Ile505Thr
ENST00000684372.1:c.1013T>C	ENSP00000508244.1:p.Ile338Thr
ENST00000684434.1:c.985T>C
ENST00000684546.1:c.1013T>C	ENSP00000507729.1:p.Ile338Thr
ENST00000684665.1:n.478T>C
ENST00000684690.1:n.1741T>C
ENST00000684699.1:n.4093T>C
ENST00000277865.5:c.1514T>C MANE Select	ENSP00000277865.4:p.Ile505Thr
ENST00000277865.4:c.1514T>C	ENSP00000277865.4:p.Ile505Thr
NM_005271.3:c.1514T>C	NP_005262.1:p.Ile505Thr
XM_011539668.1:c.1013T>C	XP_011537970.1:p.Ile338Thr
XM_011539669.1:c.1013T>C	XP_011537971.1:p.Ile338Thr
NM_001318900.1:c.1115T>C	NP_001305829.1:p.Ile372Thr
NM_001318901.1:c.1013T>C	NP_001305830.1:p.Ile338Thr
NM_001318902.1:c.1013T>C	NP_001305831.1:p.Ile338Thr
NM_001318904.1:c.1013T>C	NP_001305833.1:p.Ile338Thr
NM_001318905.1:c.1013T>C	NP_001305834.1:p.Ile338Thr
NM_001318906.1:c.1013T>C	NP_001305835.1:p.Ile338Thr
NM_005271.4:c.1514T>C	NP_005262.1:p.Ile505Thr
NM_005271.5:c.1514T>C MANE Select	NP_005262.1:p.Ile505Thr
NM_001318904.2:c.1013T>C	NP_001305833.1:p.Ile338Thr
NM_001318905.2:c.1013T>C	NP_001305834.1:p.Ile338Thr
NM_001318906.2:c.1013T>C	NP_001305835.1:p.Ile338Thr