Canonical Allele Identifier: CA364143446

Gene: GNMT

Linked Data

• dbSNP Id: rs377704687
• gnomAD v2: 6-42928653-C-T
• gnomAD v4: 6-42960915-C-T
• MyVariant Identifiers: chr6:g.42928653C>T (hg19) ; chr6:g.42960915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960915C>T , CM000668.2:g.42960915C>T	GRCh38
NC_000006.11:g.42928653C>T , CM000668.1:g.42928653C>T	GRCh37
NC_000006.10:g.43036631C>T	NCBI36
NG_008396.1:g.5154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.148C>T MANE Select	ENSP00000361894.3:p.Leu50Phe
ENST00000372808.3:c.148C>T	ENSP00000361894.3:p.Leu50Phe
NM_018960.4:c.148C>T	NP_061833.1:p.Leu50Phe
XM_011514493.1:c.-13-1297C>T	XP_011512795.1:n.-13-1297C>T
XM_011514494.1:c.-13-1297C>T	XP_011512796.1:n.-13-1297C>T
NM_001318856.1:c.9-1297C>T	NP_001305785.1:n.9-1297C>T
NM_001318857.1:c.152-1847C>T	NP_001305786.1:n.152-1847C>T
NM_001318858.1:c.152-1847C>T	NP_001305787.1:n.152-1847C>T
NM_001318865.1:c.148C>T	NP_001305794.1:p.Leu50Phe
NM_018960.5:c.148C>T	NP_061833.1:p.Leu50Phe
NR_134890.1:n.690-1847C>T
NR_134891.1:n.593-1847C>T
NR_134892.1:n.593-1297C>T
NR_134899.1:n.162C>T
NM_018960.6:c.148C>T MANE Select	NP_061833.1:p.Leu50Phe
NM_001318856.2:c.9-1297C>T	NP_001305785.1:n.9-1297C>T
NM_001318857.2:c.152-1847C>T	NP_001305786.1:n.152-1847C>T
NM_001318858.2:c.152-1847C>T	NP_001305787.1:n.152-1847C>T
NM_001318865.2:c.148C>T	NP_001305794.1:p.Leu50Phe
NR_134890.2:n.340-1847C>T
NR_134891.2:n.243-1847C>T
NR_134892.2:n.243-1297C>T
NR_134899.2:n.162C>T