Canonical Allele Identifier: CA1624303466
Gene: GNMT HGNC NCBI

Linked Data

dbSNP Id: rs1769343886

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960904_42960908dup , CM000668.2:g.42960904_42960908dup GRCh38
NC_000006.11:g.42928642_42928646dup , CM000668.1:g.42928642_42928646dup GRCh37
NC_000006.10:g.43036620_43036624dup NCBI36
NG_008396.1:g.5143_5147dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.137_141dup MANE Select ENSP00000361894.3:p.Trp48ArgfsTer19
ENST00000372808.3:c.137_141dup ENSP00000361894.3:p.Trp48ArgfsTer19
NM_018960.4:c.137_141dup NP_061833.1:p.Trp48ArgfsTer19
XM_011514493.1:c.-13-1308_-13-1304dup XP_011512795.1:n.-13-1308_-13-1304dup
XM_011514494.1:c.-13-1308_-13-1304dup XP_011512796.1:n.-13-1308_-13-1304dup
NM_001318856.1:c.9-1308_9-1304dup NP_001305785.1:n.9-1308_9-1304dup
NM_001318857.1:c.152-1858_152-1854dup NP_001305786.1:n.152-1858_152-1854dup
NM_001318858.1:c.152-1858_152-1854dup NP_001305787.1:n.152-1858_152-1854dup
NM_001318865.1:c.137_141dup NP_001305794.1:p.Trp48ArgfsTer19
NM_018960.5:c.137_141dup NP_061833.1:p.Trp48ArgfsTer19
NR_134890.1:n.690-1858_690-1854dup
NR_134891.1:n.593-1858_593-1854dup
NR_134892.1:n.593-1308_593-1304dup
NR_134899.1:n.151_155dup
NM_018960.6:c.137_141dup MANE Select NP_061833.1:p.Trp48ArgfsTer19
NM_001318856.2:c.9-1308_9-1304dup NP_001305785.1:n.9-1308_9-1304dup
NM_001318857.2:c.152-1858_152-1854dup NP_001305786.1:n.152-1858_152-1854dup
NM_001318858.2:c.152-1858_152-1854dup NP_001305787.1:n.152-1858_152-1854dup
NM_001318865.2:c.137_141dup NP_001305794.1:p.Trp48ArgfsTer19
NR_134890.2:n.340-1858_340-1854dup
NR_134891.2:n.243-1858_243-1854dup
NR_134892.2:n.243-1308_243-1304dup
NR_134899.2:n.151_155dup