Canonical Allele Identifier: CA824891665
Gene: GNMT HGNC NCBI

Linked Data

dbSNP Id: rs1435652141
gnomAD v3: 6-42960594-G-C
gnomAD v4: 6-42960594-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960594G>C , CM000668.2:g.42960594G>C GRCh38
NC_000006.11:g.42928332G>C , CM000668.1:g.42928332G>C GRCh37
NC_000006.10:g.43036310G>C NCBI36
NG_008396.1:g.4833G>C

Transcript Alleles

HGVS Amino-acid Change
XM_011514493.1:c.-13-1618G>C XP_011512795.1:n.-13-1618G>C
XM_011514494.1:c.-13-1618G>C XP_011512796.1:n.-13-1618G>C
NM_001318856.1:c.9-1618G>C NP_001305785.1:n.9-1618G>C
NM_001318857.1:c.152-2168G>C NP_001305786.1:n.152-2168G>C
NM_001318858.1:c.152-2168G>C NP_001305787.1:n.152-2168G>C
NR_134890.1:n.690-2168G>C
NR_134891.1:n.593-2168G>C
NR_134892.1:n.593-1618G>C
NM_001318856.2:c.9-1618G>C NP_001305785.1:n.9-1618G>C
NM_001318857.2:c.152-2168G>C NP_001305786.1:n.152-2168G>C
NM_001318858.2:c.152-2168G>C NP_001305787.1:n.152-2168G>C
NR_134890.2:n.340-2168G>C
NR_134891.2:n.243-2168G>C
NR_134892.2:n.243-1618G>C