Canonical Allele Identifier: CA390445989

Gene: MLH3

Linked Data

• ClinVar Variation Id: 1771600
• ClinVar RCV Id: RCV004057100
• dbSNP Id: rs2139584274
• gnomAD v4: 14-75048262-C-T
• MyVariant Identifiers: chr14:g.75514965C>T (hg19) ; chr14:g.75048262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75048262C>T , CM000676.2:g.75048262C>T	GRCh38
NC_000014.8:g.75514965C>T , CM000676.1:g.75514965C>T	GRCh37
NC_000014.7:g.74584718C>T	NCBI36
NG_008649.1:g.8271G>A , LRG_217:g.8271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.1394G>A MANE Select	ENSP00000348020.2:p.Cys465Tyr
ENST00000355774.6:c.1394G>A	ENSP00000348020.2:p.Cys465Tyr
ENST00000380968.6:c.1394G>A	ENSP00000370355.3:p.Cys465Tyr
ENST00000556257.5:c.1394G>A	ENSP00000451540.1:p.Cys465Tyr
ENST00000556740.5:c.1394G>A	ENSP00000452316.1:p.Cys465Tyr
NM_001040108.1:c.1394G>A , LRG_217t1:c.1394G>A	NP_001035197.1:p.Cys465Tyr
NM_014381.2:c.1394G>A	NP_055196.2:p.Cys465Tyr
XM_005267531.3:c.1394G>A	XP_005267588.1:p.Cys465Tyr
XM_005267532.3:c.1394G>A	XP_005267589.1:p.Cys465Tyr
XM_005267533.3:c.1394G>A	XP_005267590.1:p.Cys465Tyr
XM_005267534.2:c.1394G>A	XP_005267591.1:p.Cys465Tyr
XM_006720116.2:c.1394G>A	XP_006720179.1:p.Cys465Tyr
XM_011536646.1:c.1394G>A	XP_011534948.1:p.Cys465Tyr
XM_011536647.1:c.1394G>A	XP_011534949.1:p.Cys465Tyr
XM_011536648.1:c.1394G>A	XP_011534950.1:p.Cys465Tyr
XR_245681.2:n.1610G>A
XM_005267532.5:c.1394G>A	XP_005267589.1:p.Cys465Tyr
XM_005267533.5:c.1394G>A	XP_005267590.1:p.Cys465Tyr
XM_005267534.3:c.1394G>A	XP_005267591.1:p.Cys465Tyr
XM_006720116.4:c.1394G>A	XP_006720179.1:p.Cys465Tyr
XM_011536646.3:c.1394G>A	XP_011534948.1:p.Cys465Tyr
XM_017021219.2:c.1394G>A	XP_016876708.1:p.Cys465Tyr
XM_024449538.1:c.1394G>A	XP_024305306.1:p.Cys465Tyr
XR_001750225.2:n.1557G>A
XR_001750227.2:n.1557G>A
XR_001750228.2:n.1557G>A
XR_001750229.2:n.1557G>A
XR_001750230.2:n.1557G>A
XR_002957544.1:n.1557G>A
XR_245681.4:n.1557G>A
NM_001040108.2:c.1394G>A MANE Select	NP_001035197.1:p.Cys465Tyr
NM_014381.3:c.1394G>A	NP_055196.2:p.Cys465Tyr