Canonical Allele Identifier: CA138215832

Gene: GNMT

Linked Data

• dbSNP Id: rs984385174
• gnomAD v2: 6-42928173-G-A
• gnomAD v3: 6-42960435-G-A
• gnomAD v4: 6-42960435-G-A
• MyVariant Identifiers: chr6:g.42928173G>A (hg19) ; chr6:g.42960435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960435G>A , CM000668.2:g.42960435G>A	GRCh38
NC_000006.11:g.42928173G>A , CM000668.1:g.42928173G>A	GRCh37
NC_000006.10:g.43036151G>A	NCBI36
NG_008396.1:g.4674G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011514493.1:c.-13-1777G>A	XP_011512795.1:n.-13-1777G>A
XM_011514494.1:c.-13-1777G>A	XP_011512796.1:n.-13-1777G>A
NM_001318856.1:c.9-1777G>A	NP_001305785.1:n.9-1777G>A
NM_001318857.1:c.152-2327G>A	NP_001305786.1:n.152-2327G>A
NM_001318858.1:c.152-2327G>A	NP_001305787.1:n.152-2327G>A
NR_134890.1:n.690-2327G>A
NR_134891.1:n.593-2327G>A
NR_134892.1:n.593-1777G>A
NM_001318856.2:c.9-1777G>A	NP_001305785.1:n.9-1777G>A
NM_001318857.2:c.152-2327G>A	NP_001305786.1:n.152-2327G>A
NM_001318858.2:c.152-2327G>A	NP_001305787.1:n.152-2327G>A
NR_134890.2:n.340-2327G>A
NR_134891.2:n.243-2327G>A
NR_134892.2:n.243-1777G>A