Canonical Allele Identifier: CA248600
Gene: GNMT HGNC NCBI

Linked Data

ClinVar Variation Id: 4169
ClinVar RCV Id: RCV000004386
dbSNP Id: rs121907888
gnomAD v2: 6-42928654-T-C
gnomAD v4: 6-42960916-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42960916T>C , CM000668.2:g.42960916T>C GRCh38
NC_000006.11:g.42928654T>C , CM000668.1:g.42928654T>C GRCh37
NC_000006.10:g.43036632T>C NCBI36
NG_008396.1:g.5155T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372808.4:c.149T>C MANE Select ENSP00000361894.3:p.Leu50Pro
ENST00000372808.3:c.149T>C ENSP00000361894.3:p.Leu50Pro
NM_018960.4:c.149T>C NP_061833.1:p.Leu50Pro
XM_011514493.1:c.-13-1296T>C XP_011512795.1:n.-13-1296T>C
XM_011514494.1:c.-13-1296T>C XP_011512796.1:n.-13-1296T>C
NM_001318856.1:c.9-1296T>C NP_001305785.1:n.9-1296T>C
NM_001318857.1:c.152-1846T>C NP_001305786.1:n.152-1846T>C
NM_001318858.1:c.152-1846T>C NP_001305787.1:n.152-1846T>C
NM_001318865.1:c.149T>C NP_001305794.1:p.Leu50Pro
NM_018960.5:c.149T>C NP_061833.1:p.Leu50Pro
NR_134890.1:n.690-1846T>C
NR_134891.1:n.593-1846T>C
NR_134892.1:n.593-1296T>C
NR_134899.1:n.163T>C
NM_018960.6:c.149T>C MANE Select NP_061833.1:p.Leu50Pro
NM_001318856.2:c.9-1296T>C NP_001305785.1:n.9-1296T>C
NM_001318857.2:c.152-1846T>C NP_001305786.1:n.152-1846T>C
NM_001318858.2:c.152-1846T>C NP_001305787.1:n.152-1846T>C
NM_001318865.2:c.149T>C NP_001305794.1:p.Leu50Pro
NR_134890.2:n.340-1846T>C
NR_134891.2:n.243-1846T>C
NR_134892.2:n.243-1296T>C
NR_134899.2:n.163T>C