Canonical Allele Identifier: CA364143100

Gene: GNMT

Linked Data

• ClinVar Variation Id: 848514
• ClinVar RCV Id: RCV001052288
• dbSNP Id: rs1769327543
• gnomAD v4: 6-42960792-C-G
• MyVariant Identifiers: chr6:g.42928530C>G (hg19) ; chr6:g.42960792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960792C>G , CM000668.2:g.42960792C>G	GRCh38
NC_000006.11:g.42928530C>G , CM000668.1:g.42928530C>G	GRCh37
NC_000006.10:g.43036508C>G	NCBI36
NG_008396.1:g.5031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.25C>G MANE Select	ENSP00000361894.3:p.Arg9Gly
ENST00000372808.3:c.25C>G	ENSP00000361894.3:p.Arg9Gly
NM_018960.4:c.25C>G	NP_061833.1:p.Arg9Gly
XM_011514493.1:c.-13-1420C>G	XP_011512795.1:n.-13-1420C>G
XM_011514494.1:c.-13-1420C>G	XP_011512796.1:n.-13-1420C>G
NM_001318856.1:c.9-1420C>G	NP_001305785.1:n.9-1420C>G
NM_001318857.1:c.152-1970C>G	NP_001305786.1:n.152-1970C>G
NM_001318858.1:c.152-1970C>G	NP_001305787.1:n.152-1970C>G
NM_001318865.1:c.25C>G	NP_001305794.1:p.Arg9Gly
NM_018960.5:c.25C>G	NP_061833.1:p.Arg9Gly
NR_134890.1:n.690-1970C>G
NR_134891.1:n.593-1970C>G
NR_134892.1:n.593-1420C>G
NR_134899.1:n.39C>G
NM_018960.6:c.25C>G MANE Select	NP_061833.1:p.Arg9Gly
NM_001318856.2:c.9-1420C>G	NP_001305785.1:n.9-1420C>G
NM_001318857.2:c.152-1970C>G	NP_001305786.1:n.152-1970C>G
NM_001318858.2:c.152-1970C>G	NP_001305787.1:n.152-1970C>G
NM_001318865.2:c.25C>G	NP_001305794.1:p.Arg9Gly
NR_134890.2:n.340-1970C>G
NR_134891.2:n.243-1970C>G
NR_134892.2:n.243-1420C>G
NR_134899.2:n.39C>G