Canonical Allele Identifier: CA450252118

Gene: GNMT

Linked Data

• dbSNP Id: rs1386548678
• gnomAD v2: 6-42928550-C-A
• gnomAD v4: 6-42960812-C-A
• MyVariant Identifiers: chr6:g.42928550C>A (hg19) ; chr6:g.42960812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960812C>A , CM000668.2:g.42960812C>A	GRCh38
NC_000006.11:g.42928550C>A , CM000668.1:g.42928550C>A	GRCh37
NC_000006.10:g.43036528C>A	NCBI36
NG_008396.1:g.5051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.45C>A MANE Select	ENSP00000361894.3:p.Ala15=
ENST00000372808.3:c.45C>A	ENSP00000361894.3:p.Ala15=
NM_018960.4:c.45C>A	NP_061833.1:p.Ala15=
XM_011514493.1:c.-13-1400C>A	XP_011512795.1:n.-13-1400C>A
XM_011514494.1:c.-13-1400C>A	XP_011512796.1:n.-13-1400C>A
NM_001318856.1:c.9-1400C>A	NP_001305785.1:n.9-1400C>A
NM_001318857.1:c.152-1950C>A	NP_001305786.1:n.152-1950C>A
NM_001318858.1:c.152-1950C>A	NP_001305787.1:n.152-1950C>A
NM_001318865.1:c.45C>A	NP_001305794.1:p.Ala15=
NM_018960.5:c.45C>A	NP_061833.1:p.Ala15=
NR_134890.1:n.690-1950C>A
NR_134891.1:n.593-1950C>A
NR_134892.1:n.593-1400C>A
NR_134899.1:n.59C>A
NM_018960.6:c.45C>A MANE Select	NP_061833.1:p.Ala15=
NM_001318856.2:c.9-1400C>A	NP_001305785.1:n.9-1400C>A
NM_001318857.2:c.152-1950C>A	NP_001305786.1:n.152-1950C>A
NM_001318858.2:c.152-1950C>A	NP_001305787.1:n.152-1950C>A
NM_001318865.2:c.45C>A	NP_001305794.1:p.Ala15=
NR_134890.2:n.340-1950C>A
NR_134891.2:n.243-1950C>A
NR_134892.2:n.243-1400C>A
NR_134899.2:n.59C>A