Canonical Allele Identifier: CA390417489

Gene: MLH3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75017093C>G , CM000676.2:g.75017093C>G	GRCh38
NC_000014.8:g.75483796C>G , CM000676.1:g.75483796C>G	GRCh37
NC_000014.7:g.74553549C>G	NCBI36
NG_008649.1:g.39440G>C , LRG_217:g.39440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.4351G>C MANE Select	ENSP00000348020.2:p.Glu1451Gln
ENST00000355774.6:c.4351G>C	ENSP00000348020.2:p.Glu1451Gln
ENST00000380968.6:c.4279G>C	ENSP00000370355.3:p.Glu1427Gln
ENST00000553713.5:c.1422G>C
ENST00000554697.5:c.364G>C	ENSP00000451055.1:p.Glu122Gln
ENST00000555415.1:n.393G>C
ENST00000556257.5:c.3817G>C	ENSP00000451540.1:p.Glu1273Gln
ENST00000556740.5:c.4351G>C	ENSP00000452316.1:p.Glu1451Gln
NM_001040108.1:c.4351G>C , LRG_217t1:c.4351G>C	NP_001035197.1:p.Glu1451Gln
NM_014381.2:c.4279G>C	NP_055196.2:p.Glu1427Gln
XM_005267531.3:c.4351G>C	XP_005267588.1:p.Glu1451Gln
XM_005267532.3:c.4246G>C	XP_005267589.1:p.Glu1416Gln
XM_005267533.3:c.4174G>C	XP_005267590.1:p.Glu1392Gln
XM_006720116.2:c.4351G>C	XP_006720179.1:p.Glu1451Gln
XM_011536646.1:c.4180G>C	XP_011534948.1:p.Glu1394Gln
XR_245681.2:n.4567G>C
XM_005267532.5:c.4246G>C	XP_005267589.1:p.Glu1416Gln
XM_005267533.5:c.4174G>C	XP_005267590.1:p.Glu1392Gln
XM_006720116.4:c.4351G>C	XP_006720179.1:p.Glu1451Gln
XM_011536646.3:c.4180G>C	XP_011534948.1:p.Glu1394Gln
XM_017021219.2:c.4279G>C	XP_016876708.1:p.Glu1427Gln
XM_024449538.1:c.4246G>C	XP_024305306.1:p.Glu1416Gln
XM_024449539.1:c.799G>C	XP_024305307.1:p.Glu267Gln
XR_001750225.2:n.4442G>C
XR_001750227.2:n.4354G>C
XR_001750228.2:n.4527G>C
XR_001750229.2:n.4422G>C
XR_001750230.2:n.4359G>C
XR_002957544.1:n.4523G>C
XR_245681.4:n.4514G>C
NM_001040108.2:c.4351G>C MANE Select	NP_001035197.1:p.Glu1451Gln
NM_014381.3:c.4279G>C	NP_055196.2:p.Glu1427Gln