Canonical Allele Identifier: CA566784938
Gene: GNMT HGNC NCBI

Linked Data

dbSNP Id: rs1196006351
gnomAD v2: 6-42928365-A-C
gnomAD v3: 6-42960627-A-C
gnomAD v4: 6-42960627-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960627A>C , CM000668.2:g.42960627A>C GRCh38
NC_000006.11:g.42928365A>C , CM000668.1:g.42928365A>C GRCh37
NC_000006.10:g.43036343A>C NCBI36
NG_008396.1:g.4866A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011514493.1:c.-13-1585A>C XP_011512795.1:n.-13-1585A>C
XM_011514494.1:c.-13-1585A>C XP_011512796.1:n.-13-1585A>C
NM_001318856.1:c.9-1585A>C NP_001305785.1:n.9-1585A>C
NM_001318857.1:c.152-2135A>C NP_001305786.1:n.152-2135A>C
NM_001318858.1:c.152-2135A>C NP_001305787.1:n.152-2135A>C
NR_134890.1:n.690-2135A>C
NR_134891.1:n.593-2135A>C
NR_134892.1:n.593-1585A>C
NM_001318856.2:c.9-1585A>C NP_001305785.1:n.9-1585A>C
NM_001318857.2:c.152-2135A>C NP_001305786.1:n.152-2135A>C
NM_001318858.2:c.152-2135A>C NP_001305787.1:n.152-2135A>C
NR_134890.2:n.340-2135A>C
NR_134891.2:n.243-2135A>C
NR_134892.2:n.243-1585A>C