Canonical Allele Identifier: CA364143640
Gene: GNMT HGNC NCBI

Linked Data

gnomAD v4: 6-42960967-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960967G>C , CM000668.2:g.42960967G>C GRCh38
NC_000006.11:g.42928705G>C , CM000668.1:g.42928705G>C GRCh37
NC_000006.10:g.43036683G>C NCBI36
NG_008396.1:g.5206G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372808.4:c.200G>C MANE Select ENSP00000361894.3:p.Gly67Ala
ENST00000372808.3:c.200G>C ENSP00000361894.3:p.Gly67Ala
NM_018960.4:c.200G>C NP_061833.1:p.Gly67Ala
XM_011514493.1:c.-13-1245G>C XP_011512795.1:n.-13-1245G>C
XM_011514494.1:c.-13-1245G>C XP_011512796.1:n.-13-1245G>C
NM_001318856.1:c.9-1245G>C NP_001305785.1:n.9-1245G>C
NM_001318857.1:c.152-1795G>C NP_001305786.1:n.152-1795G>C
NM_001318858.1:c.152-1795G>C NP_001305787.1:n.152-1795G>C
NM_001318865.1:c.200G>C NP_001305794.1:p.Gly67Ala
NM_018960.5:c.200G>C NP_061833.1:p.Gly67Ala
NR_134890.1:n.690-1795G>C
NR_134891.1:n.593-1795G>C
NR_134892.1:n.593-1245G>C
NR_134899.1:n.214G>C
NM_018960.6:c.200G>C MANE Select NP_061833.1:p.Gly67Ala
NM_001318856.2:c.9-1245G>C NP_001305785.1:n.9-1245G>C
NM_001318857.2:c.152-1795G>C NP_001305786.1:n.152-1795G>C
NM_001318858.2:c.152-1795G>C NP_001305787.1:n.152-1795G>C
NM_001318865.2:c.200G>C NP_001305794.1:p.Gly67Ala
NR_134890.2:n.340-1795G>C
NR_134891.2:n.243-1795G>C
NR_134892.2:n.243-1245G>C
NR_134899.2:n.214G>C