Canonical Allele Identifier: CA3810571
Gene: GNMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1168628
dbSNP Id: rs370044528
gnomAD v2: 6-42928517-C-T
gnomAD v3: 6-42960779-C-T
gnomAD v4: 6-42960779-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960779C>T , CM000668.2:g.42960779C>T GRCh38
NC_000006.11:g.42928517C>T , CM000668.1:g.42928517C>T GRCh37
NC_000006.10:g.43036495C>T NCBI36
NG_008396.1:g.5018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.12C>T MANE Select ENSP00000361894.3:p.Ser4=
ENST00000372808.3:c.12C>T ENSP00000361894.3:p.Ser4=
NM_018960.4:c.12C>T NP_061833.1:p.Ser4=
XM_011514493.1:c.-13-1433C>T XP_011512795.1:n.-13-1433C>T
XM_011514494.1:c.-13-1433C>T XP_011512796.1:n.-13-1433C>T
NM_001318856.1:c.9-1433C>T NP_001305785.1:n.9-1433C>T
NM_001318857.1:c.152-1983C>T NP_001305786.1:n.152-1983C>T
NM_001318858.1:c.152-1983C>T NP_001305787.1:n.152-1983C>T
NM_001318865.1:c.12C>T NP_001305794.1:p.Ser4=
NM_018960.5:c.12C>T NP_061833.1:p.Ser4=
NR_134890.1:n.690-1983C>T
NR_134891.1:n.593-1983C>T
NR_134892.1:n.593-1433C>T
NR_134899.1:n.26C>T
NM_018960.6:c.12C>T MANE Select NP_061833.1:p.Ser4=
NM_001318856.2:c.9-1433C>T NP_001305785.1:n.9-1433C>T
NM_001318857.2:c.152-1983C>T NP_001305786.1:n.152-1983C>T
NM_001318858.2:c.152-1983C>T NP_001305787.1:n.152-1983C>T
NM_001318865.2:c.12C>T NP_001305794.1:p.Ser4=
NR_134890.2:n.340-1983C>T
NR_134891.2:n.243-1983C>T
NR_134892.2:n.243-1433C>T
NR_134899.2:n.26C>T