Canonical Allele Identifier: CA2678789604
Gene: GNMT HGNC NCBI

Linked Data

gnomAD v4: 6-42961016-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42961016T>C , CM000668.2:g.42961016T>C GRCh38
NC_000006.11:g.42928754T>C , CM000668.1:g.42928754T>C GRCh37
NC_000006.10:g.43036732T>C NCBI36
NG_008396.1:g.5255T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.206+43T>C MANE Select ENSP00000361894.3:n.206+43T>C
ENST00000372808.3:c.206+43T>C ENSP00000361894.3:n.206+43T>C
NM_018960.4:c.206+43T>C NP_061833.1:n.206+43T>C
XM_011514493.1:c.-13-1196T>C XP_011512795.1:n.-13-1196T>C
XM_011514494.1:c.-13-1196T>C XP_011512796.1:n.-13-1196T>C
NM_001318856.1:c.9-1196T>C NP_001305785.1:n.9-1196T>C
NM_001318857.1:c.152-1746T>C NP_001305786.1:n.152-1746T>C
NM_001318858.1:c.152-1746T>C NP_001305787.1:n.152-1746T>C
NM_001318865.1:c.206+43T>C NP_001305794.1:n.206+43T>C
NM_018960.5:c.206+43T>C NP_061833.1:n.206+43T>C
NR_134890.1:n.690-1746T>C
NR_134891.1:n.593-1746T>C
NR_134892.1:n.593-1196T>C
NR_134899.1:n.220+43T>C
NM_018960.6:c.206+43T>C MANE Select NP_061833.1:n.206+43T>C
NM_001318856.2:c.9-1196T>C NP_001305785.1:n.9-1196T>C
NM_001318857.2:c.152-1746T>C NP_001305786.1:n.152-1746T>C
NM_001318858.2:c.152-1746T>C NP_001305787.1:n.152-1746T>C
NM_001318865.2:c.206+43T>C NP_001305794.1:n.206+43T>C
NR_134890.2:n.340-1746T>C
NR_134891.2:n.243-1746T>C
NR_134892.2:n.243-1196T>C
NR_134899.2:n.220+43T>C