Canonical Allele Identifier: CA138216387

Gene: GNMT

Linked Data

• dbSNP Id: rs886306300
• gnomAD v2: 6-42929029-T-C
• gnomAD v3: 6-42961291-T-C
• gnomAD v4: 6-42961291-T-C
• MyVariant Identifiers: chr6:g.42929029T>C (hg19) ; chr6:g.42961291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42961291T>C , CM000668.2:g.42961291T>C	GRCh38
NC_000006.11:g.42929029T>C , CM000668.1:g.42929029T>C	GRCh37
NC_000006.10:g.43037007T>C	NCBI36
NG_008396.1:g.5530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.206+318T>C MANE Select	ENSP00000361894.3:n.206+318T>C
ENST00000372808.3:c.206+318T>C	ENSP00000361894.3:n.206+318T>C
NM_018960.4:c.206+318T>C	NP_061833.1:n.206+318T>C
XM_011514493.1:c.-13-921T>C	XP_011512795.1:n.-13-921T>C
XM_011514494.1:c.-13-921T>C	XP_011512796.1:n.-13-921T>C
NM_001318856.1:c.9-921T>C	NP_001305785.1:n.9-921T>C
NM_001318857.1:c.152-1471T>C	NP_001305786.1:n.152-1471T>C
NM_001318858.1:c.152-1471T>C	NP_001305787.1:n.152-1471T>C
NM_001318865.1:c.206+318T>C	NP_001305794.1:n.206+318T>C
NM_018960.5:c.206+318T>C	NP_061833.1:n.206+318T>C
NR_134890.1:n.690-1471T>C
NR_134891.1:n.593-1471T>C
NR_134892.1:n.593-921T>C
NR_134899.1:n.220+318T>C
NM_018960.6:c.206+318T>C MANE Select	NP_061833.1:n.206+318T>C
NM_001318856.2:c.9-921T>C	NP_001305785.1:n.9-921T>C
NM_001318857.2:c.152-1471T>C	NP_001305786.1:n.152-1471T>C
NM_001318858.2:c.152-1471T>C	NP_001305787.1:n.152-1471T>C
NM_001318865.2:c.206+318T>C	NP_001305794.1:n.206+318T>C
NR_134890.2:n.340-1471T>C
NR_134891.2:n.243-1471T>C
NR_134892.2:n.243-921T>C
NR_134899.2:n.220+318T>C