Canonical Allele Identifier: CA364143310

Gene: GNMT

Linked Data

• dbSNP Id: rs1366871586
• gnomAD v2: 6-42928591-G-A
• gnomAD v3: 6-42960853-G-A
• gnomAD v4: 6-42960853-G-A
• MyVariant Identifiers: chr6:g.42928591G>A (hg19) ; chr6:g.42960853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960853G>A , CM000668.2:g.42960853G>A	GRCh38
NC_000006.11:g.42928591G>A , CM000668.1:g.42928591G>A	GRCh37
NC_000006.10:g.43036569G>A	NCBI36
NG_008396.1:g.5092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.86G>A MANE Select	ENSP00000361894.3:p.Arg29His
ENST00000372808.3:c.86G>A	ENSP00000361894.3:p.Arg29His
NM_018960.4:c.86G>A	NP_061833.1:p.Arg29His
XM_011514493.1:c.-13-1359G>A	XP_011512795.1:n.-13-1359G>A
XM_011514494.1:c.-13-1359G>A	XP_011512796.1:n.-13-1359G>A
NM_001318856.1:c.9-1359G>A	NP_001305785.1:n.9-1359G>A
NM_001318857.1:c.152-1909G>A	NP_001305786.1:n.152-1909G>A
NM_001318858.1:c.152-1909G>A	NP_001305787.1:n.152-1909G>A
NM_001318865.1:c.86G>A	NP_001305794.1:p.Arg29His
NM_018960.5:c.86G>A	NP_061833.1:p.Arg29His
NR_134890.1:n.690-1909G>A
NR_134891.1:n.593-1909G>A
NR_134892.1:n.593-1359G>A
NR_134899.1:n.100G>A
NM_018960.6:c.86G>A MANE Select	NP_061833.1:p.Arg29His
NM_001318856.2:c.9-1359G>A	NP_001305785.1:n.9-1359G>A
NM_001318857.2:c.152-1909G>A	NP_001305786.1:n.152-1909G>A
NM_001318858.2:c.152-1909G>A	NP_001305787.1:n.152-1909G>A
NM_001318865.2:c.86G>A	NP_001305794.1:p.Arg29His
NR_134890.2:n.340-1909G>A
NR_134891.2:n.243-1909G>A
NR_134892.2:n.243-1359G>A
NR_134899.2:n.100G>A