Canonical Allele Identifier: CA364143143
Gene: GNMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1959392
ClinVar RCV Id: RCV002710240
dbSNP Id: rs1300239369
gnomAD v2: 6-42928543-T-G
gnomAD v3: 6-42960805-T-G
gnomAD v4: 6-42960805-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960805T>G , CM000668.2:g.42960805T>G GRCh38
NC_000006.11:g.42928543T>G , CM000668.1:g.42928543T>G GRCh37
NC_000006.10:g.43036521T>G NCBI36
NG_008396.1:g.5044T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.38T>G MANE Select ENSP00000361894.3:p.Val13Gly
ENST00000372808.3:c.38T>G ENSP00000361894.3:p.Val13Gly
NM_018960.4:c.38T>G NP_061833.1:p.Val13Gly
XM_011514493.1:c.-13-1407T>G XP_011512795.1:n.-13-1407T>G
XM_011514494.1:c.-13-1407T>G XP_011512796.1:n.-13-1407T>G
NM_001318856.1:c.9-1407T>G NP_001305785.1:n.9-1407T>G
NM_001318857.1:c.152-1957T>G NP_001305786.1:n.152-1957T>G
NM_001318858.1:c.152-1957T>G NP_001305787.1:n.152-1957T>G
NM_001318865.1:c.38T>G NP_001305794.1:p.Val13Gly
NM_018960.5:c.38T>G NP_061833.1:p.Val13Gly
NR_134890.1:n.690-1957T>G
NR_134891.1:n.593-1957T>G
NR_134892.1:n.593-1407T>G
NR_134899.1:n.52T>G
NM_018960.6:c.38T>G MANE Select NP_061833.1:p.Val13Gly
NM_001318856.2:c.9-1407T>G NP_001305785.1:n.9-1407T>G
NM_001318857.2:c.152-1957T>G NP_001305786.1:n.152-1957T>G
NM_001318858.2:c.152-1957T>G NP_001305787.1:n.152-1957T>G
NM_001318865.2:c.38T>G NP_001305794.1:p.Val13Gly
NR_134890.2:n.340-1957T>G
NR_134891.2:n.243-1957T>G
NR_134892.2:n.243-1407T>G
NR_134899.2:n.52T>G