Canonical Allele Identifier: CA7275711

Gene: MLH3

Linked Data

• ClinVar Variation Id: 314383
• ClinVar RCV Id: RCV001675799 ; RCV002450869
• dbSNP Id: rs28756991
• ExAC: 14:75513969 C / T
• gnomAD v2: 14-75513969-C-T
• gnomAD v3: 14-75047266-C-T
• gnomAD v4: 14-75047266-C-T
• MyVariant Identifiers: chr14:g.75513969C>T (hg19) ; chr14:g.75047266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75047266C>T , CM000676.2:g.75047266C>T	GRCh38
NC_000014.8:g.75513969C>T , CM000676.1:g.75513969C>T	GRCh37
NC_000014.7:g.74583722C>T	NCBI36
NG_008649.1:g.9267G>A , LRG_217:g.9267G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355774.7:c.2390G>A MANE Select	ENSP00000348020.2:p.Arg797His
ENST00000355774.6:c.2390G>A	ENSP00000348020.2:p.Arg797His
ENST00000380968.6:c.2390G>A	ENSP00000370355.3:p.Arg797His
ENST00000556257.5:c.2390G>A	ENSP00000451540.1:p.Arg797His
ENST00000556740.5:c.2390G>A	ENSP00000452316.1:p.Arg797His
NM_001040108.1:c.2390G>A , LRG_217t1:c.2390G>A	NP_001035197.1:p.Arg797His
NM_014381.2:c.2390G>A	NP_055196.2:p.Arg797His
XM_005267531.3:c.2390G>A	XP_005267588.1:p.Arg797His
XM_005267532.3:c.2390G>A	XP_005267589.1:p.Arg797His
XM_005267533.3:c.2390G>A	XP_005267590.1:p.Arg797His
XM_005267534.2:c.2390G>A	XP_005267591.1:p.Arg797His
XM_006720116.2:c.2390G>A	XP_006720179.1:p.Arg797His
XM_011536646.1:c.2390G>A	XP_011534948.1:p.Arg797His
XM_011536647.1:c.2390G>A	XP_011534949.1:p.Arg797His
XM_011536648.1:c.2390G>A	XP_011534950.1:p.Arg797His
XR_245681.2:n.2606G>A
XM_005267532.5:c.2390G>A	XP_005267589.1:p.Arg797His
XM_005267533.5:c.2390G>A	XP_005267590.1:p.Arg797His
XM_005267534.3:c.2390G>A	XP_005267591.1:p.Arg797His
XM_006720116.4:c.2390G>A	XP_006720179.1:p.Arg797His
XM_011536646.3:c.2390G>A	XP_011534948.1:p.Arg797His
XM_017021219.2:c.2390G>A	XP_016876708.1:p.Arg797His
XM_024449538.1:c.2390G>A	XP_024305306.1:p.Arg797His
XR_001750225.2:n.2553G>A
XR_001750227.2:n.2553G>A
XR_001750228.2:n.2553G>A
XR_001750229.2:n.2553G>A
XR_001750230.2:n.2553G>A
XR_002957544.1:n.2553G>A
XR_245681.4:n.2553G>A
NM_001040108.2:c.2390G>A MANE Select	NP_001035197.1:p.Arg797His
NM_014381.3:c.2390G>A	NP_055196.2:p.Arg797His