Canonical Allele Identifier: CA16607844
Gene: METTL23 HGNC NCBI

Linked Data

ClinVar Variation Id: 384291
ClinVar RCV Id: RCV000421646
dbSNP Id: rs1057521913

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76733378G>C , CM000679.2:g.76733378G>C GRCh38
NC_000017.10:g.74729460G>C , CM000679.1:g.74729460G>C GRCh37
NC_000017.9:g.72241055G>C NCBI36
NG_032905.1:g.9034C>G , LRG_640:g.9034C>G
NG_041790.1:g.11549G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000341249.11:c.407+1G>C MANE Select ENSP00000341543.5:n.407+1G>C
ENST00000341249.10:c.407+1G>C ENSP00000341543.5:n.407+1G>C
ENST00000586200.1:c.50+1G>C ENSP00000465959.1:n.50+1G>C
ENST00000586738.5:c.408G>C ENSP00000468386.1:p.Arg136Ser
ENST00000586752.5:c.206+1G>C ENSP00000466203.1:n.206+1G>C
ENST00000587459.1:c.238+163G>C ENSP00000466829.1:n.238+163G>C
ENST00000588302.5:c.207G>C ENSP00000468704.1:p.Arg69Ser
ENST00000588563.5:c.407+1G>C ENSP00000467503.1:n.407+1G>C
ENST00000588783.5:c.408G>C ENSP00000466938.1:p.Arg136Ser
ENST00000588822.1:c.206+1G>C ENSP00000465430.1:n.206+1G>C
ENST00000589581.1:n.503+1G>C
ENST00000589977.5:c.408G>C ENSP00000464965.1:p.Arg136Ser
ENST00000590964.5:c.206+1G>C ENSP00000465890.1:n.206+1G>C
ENST00000591571.5:c.207G>C ENSP00000466614.1:p.Arg69Ser
ENST00000592849.5:c.407+1G>C ENSP00000467527.1:n.407+1G>C
ENST00000615984.4:c.407+1G>C ENSP00000482599.1:n.407+1G>C
NM_001080510.4:c.407+1G>C NP_001073979.3:n.407+1G>C
NM_001206983.2:c.407+1G>C NP_001193912.1:n.407+1G>C
NM_001206984.2:c.407+1G>C NP_001193913.1:n.407+1G>C
NM_001206985.2:c.206+1G>C NP_001193914.1:n.206+1G>C
NM_001206986.2:c.206+1G>C NP_001193915.1:n.206+1G>C
NM_001206987.2:c.206+1G>C NP_001193916.1:n.206+1G>C
NM_001302703.1:c.407+1G>C NP_001289632.1:n.407+1G>C
NM_001302704.1:c.206+1G>C NP_001289633.1:n.206+1G>C
NM_001302705.1:c.395+1G>C NP_001289634.1:n.395+1G>C
NR_038193.2:n.434+1G>C
XM_006721673.2:c.443+1G>C XP_006721736.1:n.443+1G>C
XM_006721674.2:c.407+1G>C XP_006721737.1:n.407+1G>C
XM_006721675.1:c.395+1G>C XP_006721738.1:n.395+1G>C
XM_006721676.2:c.395+1G>C XP_006721739.1:n.395+1G>C
XM_006721678.2:c.395+1G>C XP_006721741.1:n.395+1G>C
XM_006721679.2:c.374+1G>C XP_006721742.1:n.374+1G>C
XM_006721680.2:c.206+1G>C XP_006721743.1:n.206+1G>C
XM_011524282.1:c.395+1G>C XP_011522584.1:n.395+1G>C
XM_006721674.3:c.407+1G>C XP_006721737.1:n.407+1G>C
XM_006721676.3:c.395+1G>C XP_006721739.1:n.395+1G>C
XM_006721678.4:c.395+1G>C XP_006721741.1:n.395+1G>C
XM_006721679.3:c.374+1G>C XP_006721742.1:n.374+1G>C
XM_017024145.2:c.396G>C XP_016879634.1:p.Arg132Ser
XM_017024146.1:c.479+1G>C XP_016879635.1:n.479+1G>C
XM_024450563.1:c.*125G>C XP_024306331.1:n.*125G>C
NM_001080510.5:c.407+1G>C MANE Select NP_001073979.3:n.407+1G>C
NM_001206983.3:c.407+1G>C NP_001193912.1:n.407+1G>C
NM_001206984.3:c.407+1G>C NP_001193913.1:n.407+1G>C
NM_001206985.3:c.206+1G>C NP_001193914.1:n.206+1G>C
NM_001206986.3:c.206+1G>C NP_001193915.1:n.206+1G>C
NM_001206987.3:c.206+1G>C NP_001193916.1:n.206+1G>C
NM_001302703.2:c.407+1G>C NP_001289632.1:n.407+1G>C
NM_001302704.2:c.206+1G>C NP_001289633.1:n.206+1G>C
NM_001302705.2:c.395+1G>C NP_001289634.1:n.395+1G>C
NM_001378348.1:c.407+1G>C NP_001365277.1:n.407+1G>C
NM_001378349.1:c.407+1G>C NP_001365278.1:n.407+1G>C
NM_001378350.1:c.395+1G>C NP_001365279.1:n.395+1G>C
NM_001378351.1:c.395+1G>C NP_001365280.1:n.395+1G>C
NM_001378352.1:c.395+1G>C NP_001365281.1:n.395+1G>C
NM_001378353.1:c.395+1G>C NP_001365282.1:n.395+1G>C
NM_001378354.1:c.206+1G>C NP_001365283.1:n.206+1G>C