Canonical Allele Identifier: CA2578620392
Gene: GNMT HGNC NCBI

Linked Data

gnomAD v4: 6-42961072-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42961072G>A , CM000668.2:g.42961072G>A GRCh38
NC_000006.11:g.42928810G>A , CM000668.1:g.42928810G>A GRCh37
NC_000006.10:g.43036788G>A NCBI36
NG_008396.1:g.5311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.206+99G>A MANE Select ENSP00000361894.3:n.206+99G>A
ENST00000372808.3:c.206+99G>A ENSP00000361894.3:n.206+99G>A
NM_018960.4:c.206+99G>A NP_061833.1:n.206+99G>A
XM_011514493.1:c.-13-1140G>A XP_011512795.1:n.-13-1140G>A
XM_011514494.1:c.-13-1140G>A XP_011512796.1:n.-13-1140G>A
NM_001318856.1:c.9-1140G>A NP_001305785.1:n.9-1140G>A
NM_001318857.1:c.152-1690G>A NP_001305786.1:n.152-1690G>A
NM_001318858.1:c.152-1690G>A NP_001305787.1:n.152-1690G>A
NM_001318865.1:c.206+99G>A NP_001305794.1:n.206+99G>A
NM_018960.5:c.206+99G>A NP_061833.1:n.206+99G>A
NR_134890.1:n.690-1690G>A
NR_134891.1:n.593-1690G>A
NR_134892.1:n.593-1140G>A
NR_134899.1:n.220+99G>A
NM_018960.6:c.206+99G>A MANE Select NP_061833.1:n.206+99G>A
NM_001318856.2:c.9-1140G>A NP_001305785.1:n.9-1140G>A
NM_001318857.2:c.152-1690G>A NP_001305786.1:n.152-1690G>A
NM_001318858.2:c.152-1690G>A NP_001305787.1:n.152-1690G>A
NM_001318865.2:c.206+99G>A NP_001305794.1:n.206+99G>A
NR_134890.2:n.340-1690G>A
NR_134891.2:n.243-1690G>A
NR_134892.2:n.243-1140G>A
NR_134899.2:n.220+99G>A