Canonical Allele Identifier: CA3810577

Gene: GNMT

Linked Data

• dbSNP Id: rs758753432
• ExAC: 6:42928559 C / G
• gnomAD v2: 6-42928559-C-G
• gnomAD v4: 6-42960821-C-G
• MyVariant Identifiers: chr6:g.42928559C>G (hg19) ; chr6:g.42960821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960821C>G , CM000668.2:g.42960821C>G	GRCh38
NC_000006.11:g.42928559C>G , CM000668.1:g.42928559C>G	GRCh37
NC_000006.10:g.43036537C>G	NCBI36
NG_008396.1:g.5060C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372808.4:c.54C>G MANE Select	ENSP00000361894.3:p.Leu18=
ENST00000372808.3:c.54C>G	ENSP00000361894.3:p.Leu18=
NM_018960.4:c.54C>G	NP_061833.1:p.Leu18=
XM_011514493.1:c.-13-1391C>G	XP_011512795.1:n.-13-1391C>G
XM_011514494.1:c.-13-1391C>G	XP_011512796.1:n.-13-1391C>G
NM_001318856.1:c.9-1391C>G	NP_001305785.1:n.9-1391C>G
NM_001318857.1:c.152-1941C>G	NP_001305786.1:n.152-1941C>G
NM_001318858.1:c.152-1941C>G	NP_001305787.1:n.152-1941C>G
NM_001318865.1:c.54C>G	NP_001305794.1:p.Leu18=
NM_018960.5:c.54C>G	NP_061833.1:p.Leu18=
NR_134890.1:n.690-1941C>G
NR_134891.1:n.593-1941C>G
NR_134892.1:n.593-1391C>G
NR_134899.1:n.68C>G
NM_018960.6:c.54C>G MANE Select	NP_061833.1:p.Leu18=
NM_001318856.2:c.9-1391C>G	NP_001305785.1:n.9-1391C>G
NM_001318857.2:c.152-1941C>G	NP_001305786.1:n.152-1941C>G
NM_001318858.2:c.152-1941C>G	NP_001305787.1:n.152-1941C>G
NM_001318865.2:c.54C>G	NP_001305794.1:p.Leu18=
NR_134890.2:n.340-1941C>G
NR_134891.2:n.243-1941C>G
NR_134892.2:n.243-1391C>G
NR_134899.2:n.68C>G