Canonical Allele Identifier: CA364143346

Gene: GNMT

Linked Data

• ClinVar Variation Id: 3100661
• ClinVar RCV Id: RCV004395538
• dbSNP Id: rs2114223443
• gnomAD v3: 6-42960868-A-G
• gnomAD v4: 6-42960868-A-G
• MyVariant Identifiers: chr6:g.42928606A>G (hg19) ; chr6:g.42960868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960868A>G , CM000668.2:g.42960868A>G	GRCh38
NC_000006.11:g.42928606A>G , CM000668.1:g.42928606A>G	GRCh37
NC_000006.10:g.43036584A>G	NCBI36
NG_008396.1:g.5107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.101A>G MANE Select	ENSP00000361894.3:p.Tyr34Cys
ENST00000372808.3:c.101A>G	ENSP00000361894.3:p.Tyr34Cys
NM_018960.4:c.101A>G	NP_061833.1:p.Tyr34Cys
XM_011514493.1:c.-13-1344A>G	XP_011512795.1:n.-13-1344A>G
XM_011514494.1:c.-13-1344A>G	XP_011512796.1:n.-13-1344A>G
NM_001318856.1:c.9-1344A>G	NP_001305785.1:n.9-1344A>G
NM_001318857.1:c.152-1894A>G	NP_001305786.1:n.152-1894A>G
NM_001318858.1:c.152-1894A>G	NP_001305787.1:n.152-1894A>G
NM_001318865.1:c.101A>G	NP_001305794.1:p.Tyr34Cys
NM_018960.5:c.101A>G	NP_061833.1:p.Tyr34Cys
NR_134890.1:n.690-1894A>G
NR_134891.1:n.593-1894A>G
NR_134892.1:n.593-1344A>G
NR_134899.1:n.115A>G
NM_018960.6:c.101A>G MANE Select	NP_061833.1:p.Tyr34Cys
NM_001318856.2:c.9-1344A>G	NP_001305785.1:n.9-1344A>G
NM_001318857.2:c.152-1894A>G	NP_001305786.1:n.152-1894A>G
NM_001318858.2:c.152-1894A>G	NP_001305787.1:n.152-1894A>G
NM_001318865.2:c.101A>G	NP_001305794.1:p.Tyr34Cys
NR_134890.2:n.340-1894A>G
NR_134891.2:n.243-1894A>G
NR_134892.2:n.243-1344A>G
NR_134899.2:n.115A>G