Canonical Allele Identifier: CA364143180

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960817-G-T
• MyVariant Identifiers: chr6:g.42928555G>T (hg19) ; chr6:g.42960817G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960817G>T , CM000668.2:g.42960817G>T	GRCh38
NC_000006.11:g.42928555G>T , CM000668.1:g.42928555G>T	GRCh37
NC_000006.10:g.43036533G>T	NCBI36
NG_008396.1:g.5056G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372808.4:c.50G>T MANE Select	ENSP00000361894.3:p.Gly17Val
ENST00000372808.3:c.50G>T	ENSP00000361894.3:p.Gly17Val
NM_018960.4:c.50G>T	NP_061833.1:p.Gly17Val
XM_011514493.1:c.-13-1395G>T	XP_011512795.1:n.-13-1395G>T
XM_011514494.1:c.-13-1395G>T	XP_011512796.1:n.-13-1395G>T
NM_001318856.1:c.9-1395G>T	NP_001305785.1:n.9-1395G>T
NM_001318857.1:c.152-1945G>T	NP_001305786.1:n.152-1945G>T
NM_001318858.1:c.152-1945G>T	NP_001305787.1:n.152-1945G>T
NM_001318865.1:c.50G>T	NP_001305794.1:p.Gly17Val
NM_018960.5:c.50G>T	NP_061833.1:p.Gly17Val
NR_134890.1:n.690-1945G>T
NR_134891.1:n.593-1945G>T
NR_134892.1:n.593-1395G>T
NR_134899.1:n.64G>T
NM_018960.6:c.50G>T MANE Select	NP_061833.1:p.Gly17Val
NM_001318856.2:c.9-1395G>T	NP_001305785.1:n.9-1395G>T
NM_001318857.2:c.152-1945G>T	NP_001305786.1:n.152-1945G>T
NM_001318858.2:c.152-1945G>T	NP_001305787.1:n.152-1945G>T
NM_001318865.2:c.50G>T	NP_001305794.1:p.Gly17Val
NR_134890.2:n.340-1945G>T
NR_134891.2:n.243-1945G>T
NR_134892.2:n.243-1395G>T
NR_134899.2:n.64G>T