Canonical Allele Identifier: CA138216065
Gene: GNMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2705612
ClinVar RCV Id: RCV003575513
dbSNP Id: rs913376414
gnomAD v4: 6-42960843-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960843G>A , CM000668.2:g.42960843G>A GRCh38
NC_000006.11:g.42928581G>A , CM000668.1:g.42928581G>A GRCh37
NC_000006.10:g.43036559G>A NCBI36
NG_008396.1:g.5082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.76G>A MANE Select ENSP00000361894.3:p.Glu26Lys
ENST00000372808.3:c.76G>A ENSP00000361894.3:p.Glu26Lys
NM_018960.4:c.76G>A NP_061833.1:p.Glu26Lys
XM_011514493.1:c.-13-1369G>A XP_011512795.1:n.-13-1369G>A
XM_011514494.1:c.-13-1369G>A XP_011512796.1:n.-13-1369G>A
NM_001318856.1:c.9-1369G>A NP_001305785.1:n.9-1369G>A
NM_001318857.1:c.152-1919G>A NP_001305786.1:n.152-1919G>A
NM_001318858.1:c.152-1919G>A NP_001305787.1:n.152-1919G>A
NM_001318865.1:c.76G>A NP_001305794.1:p.Glu26Lys
NM_018960.5:c.76G>A NP_061833.1:p.Glu26Lys
NR_134890.1:n.690-1919G>A
NR_134891.1:n.593-1919G>A
NR_134892.1:n.593-1369G>A
NR_134899.1:n.90G>A
NM_018960.6:c.76G>A MANE Select NP_061833.1:p.Glu26Lys
NM_001318856.2:c.9-1369G>A NP_001305785.1:n.9-1369G>A
NM_001318857.2:c.152-1919G>A NP_001305786.1:n.152-1919G>A
NM_001318858.2:c.152-1919G>A NP_001305787.1:n.152-1919G>A
NM_001318865.2:c.76G>A NP_001305794.1:p.Glu26Lys
NR_134890.2:n.340-1919G>A
NR_134891.2:n.243-1919G>A
NR_134892.2:n.243-1369G>A
NR_134899.2:n.90G>A