Canonical Allele Identifier: CA401188377

Gene: METTL23

Linked Data

• dbSNP Id: rs2077321301
• gnomAD v4: 17-76733379-C-T
• MyVariant Identifiers: chr17:g.74729461C>T (hg19) ; chr17:g.76733379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76733379C>T , CM000679.2:g.76733379C>T	GRCh38
NC_000017.10:g.74729461C>T , CM000679.1:g.74729461C>T	GRCh37
NC_000017.9:g.72241056C>T	NCBI36
NG_032905.1:g.9033G>A , LRG_640:g.9033G>A
NG_041790.1:g.11550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341249.11:c.407+2C>T MANE Select	ENSP00000341543.5:n.407+2C>T
ENST00000341249.10:c.407+2C>T	ENSP00000341543.5:n.407+2C>T
ENST00000586200.1:c.50+2C>T	ENSP00000465959.1:n.50+2C>T
ENST00000586738.5:c.409C>T	ENSP00000468386.1:p.Gln137Ter
ENST00000586752.5:c.206+2C>T	ENSP00000466203.1:n.206+2C>T
ENST00000587459.1:c.238+164C>T	ENSP00000466829.1:n.238+164C>T
ENST00000588302.5:c.208C>T	ENSP00000468704.1:p.Gln70Ter
ENST00000588563.5:c.407+2C>T	ENSP00000467503.1:n.407+2C>T
ENST00000588783.5:c.409C>T	ENSP00000466938.1:p.Gln137Ter
ENST00000588822.1:c.206+2C>T	ENSP00000465430.1:n.206+2C>T
ENST00000589581.1:n.503+2C>T
ENST00000589977.5:c.409C>T	ENSP00000464965.1:p.Gln137Ter
ENST00000590964.5:c.206+2C>T	ENSP00000465890.1:n.206+2C>T
ENST00000591571.5:c.208C>T	ENSP00000466614.1:p.Gln70Ter
ENST00000592849.5:c.407+2C>T	ENSP00000467527.1:n.407+2C>T
ENST00000615984.4:c.407+2C>T	ENSP00000482599.1:n.407+2C>T
NM_001080510.4:c.407+2C>T	NP_001073979.3:n.407+2C>T
NM_001206983.2:c.407+2C>T	NP_001193912.1:n.407+2C>T
NM_001206984.2:c.407+2C>T	NP_001193913.1:n.407+2C>T
NM_001206985.2:c.206+2C>T	NP_001193914.1:n.206+2C>T
NM_001206986.2:c.206+2C>T	NP_001193915.1:n.206+2C>T
NM_001206987.2:c.206+2C>T	NP_001193916.1:n.206+2C>T
NM_001302703.1:c.407+2C>T	NP_001289632.1:n.407+2C>T
NM_001302704.1:c.206+2C>T	NP_001289633.1:n.206+2C>T
NM_001302705.1:c.395+2C>T	NP_001289634.1:n.395+2C>T
NR_038193.2:n.434+2C>T
XM_006721673.2:c.443+2C>T	XP_006721736.1:n.443+2C>T
XM_006721674.2:c.407+2C>T	XP_006721737.1:n.407+2C>T
XM_006721675.1:c.395+2C>T	XP_006721738.1:n.395+2C>T
XM_006721676.2:c.395+2C>T	XP_006721739.1:n.395+2C>T
XM_006721678.2:c.395+2C>T	XP_006721741.1:n.395+2C>T
XM_006721679.2:c.374+2C>T	XP_006721742.1:n.374+2C>T
XM_006721680.2:c.206+2C>T	XP_006721743.1:n.206+2C>T
XM_011524282.1:c.395+2C>T	XP_011522584.1:n.395+2C>T
XM_006721674.3:c.407+2C>T	XP_006721737.1:n.407+2C>T
XM_006721676.3:c.395+2C>T	XP_006721739.1:n.395+2C>T
XM_006721678.4:c.395+2C>T	XP_006721741.1:n.395+2C>T
XM_006721679.3:c.374+2C>T	XP_006721742.1:n.374+2C>T
XM_017024145.2:c.397C>T	XP_016879634.1:p.Gln133Ter
XM_017024146.1:c.479+2C>T	XP_016879635.1:n.479+2C>T
XM_024450563.1:c.*126C>T	XP_024306331.1:n.*126C>T
NM_001080510.5:c.407+2C>T MANE Select	NP_001073979.3:n.407+2C>T
NM_001206983.3:c.407+2C>T	NP_001193912.1:n.407+2C>T
NM_001206984.3:c.407+2C>T	NP_001193913.1:n.407+2C>T
NM_001206985.3:c.206+2C>T	NP_001193914.1:n.206+2C>T
NM_001206986.3:c.206+2C>T	NP_001193915.1:n.206+2C>T
NM_001206987.3:c.206+2C>T	NP_001193916.1:n.206+2C>T
NM_001302703.2:c.407+2C>T	NP_001289632.1:n.407+2C>T
NM_001302704.2:c.206+2C>T	NP_001289633.1:n.206+2C>T
NM_001302705.2:c.395+2C>T	NP_001289634.1:n.395+2C>T
NM_001378348.1:c.407+2C>T	NP_001365277.1:n.407+2C>T
NM_001378349.1:c.407+2C>T	NP_001365278.1:n.407+2C>T
NM_001378350.1:c.395+2C>T	NP_001365279.1:n.395+2C>T
NM_001378351.1:c.395+2C>T	NP_001365280.1:n.395+2C>T
NM_001378352.1:c.395+2C>T	NP_001365281.1:n.395+2C>T
NM_001378353.1:c.395+2C>T	NP_001365282.1:n.395+2C>T
NM_001378354.1:c.206+2C>T	NP_001365283.1:n.206+2C>T