Canonical Allele Identifier: CA390440980

Gene: MLH3

Linked Data

• ClinVar Variation Id: 2691942
• ClinVar RCV Id: RCV003494139
• MyVariant Identifiers: chr14:g.75514050G>A (hg19) ; chr14:g.75047347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75047347G>A , CM000676.2:g.75047347G>A	GRCh38
NC_000014.8:g.75514050G>A , CM000676.1:g.75514050G>A	GRCh37
NC_000014.7:g.74583803G>A	NCBI36
NG_008649.1:g.9186C>T , LRG_217:g.9186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.2309C>T MANE Select	ENSP00000348020.2:p.Thr770Ile
ENST00000355774.6:c.2309C>T	ENSP00000348020.2:p.Thr770Ile
ENST00000380968.6:c.2309C>T	ENSP00000370355.3:p.Thr770Ile
ENST00000556257.5:c.2309C>T	ENSP00000451540.1:p.Thr770Ile
ENST00000556740.5:c.2309C>T	ENSP00000452316.1:p.Thr770Ile
NM_001040108.1:c.2309C>T , LRG_217t1:c.2309C>T	NP_001035197.1:p.Thr770Ile
NM_014381.2:c.2309C>T	NP_055196.2:p.Thr770Ile
XM_005267531.3:c.2309C>T	XP_005267588.1:p.Thr770Ile
XM_005267532.3:c.2309C>T	XP_005267589.1:p.Thr770Ile
XM_005267533.3:c.2309C>T	XP_005267590.1:p.Thr770Ile
XM_005267534.2:c.2309C>T	XP_005267591.1:p.Thr770Ile
XM_006720116.2:c.2309C>T	XP_006720179.1:p.Thr770Ile
XM_011536646.1:c.2309C>T	XP_011534948.1:p.Thr770Ile
XM_011536647.1:c.2309C>T	XP_011534949.1:p.Thr770Ile
XM_011536648.1:c.2309C>T	XP_011534950.1:p.Thr770Ile
XR_245681.2:n.2525C>T
XM_005267532.5:c.2309C>T	XP_005267589.1:p.Thr770Ile
XM_005267533.5:c.2309C>T	XP_005267590.1:p.Thr770Ile
XM_005267534.3:c.2309C>T	XP_005267591.1:p.Thr770Ile
XM_006720116.4:c.2309C>T	XP_006720179.1:p.Thr770Ile
XM_011536646.3:c.2309C>T	XP_011534948.1:p.Thr770Ile
XM_017021219.2:c.2309C>T	XP_016876708.1:p.Thr770Ile
XM_024449538.1:c.2309C>T	XP_024305306.1:p.Thr770Ile
XR_001750225.2:n.2472C>T
XR_001750227.2:n.2472C>T
XR_001750228.2:n.2472C>T
XR_001750229.2:n.2472C>T
XR_001750230.2:n.2472C>T
XR_002957544.1:n.2472C>T
XR_245681.4:n.2472C>T
NM_001040108.2:c.2309C>T MANE Select	NP_001035197.1:p.Thr770Ile
NM_014381.3:c.2309C>T	NP_055196.2:p.Thr770Ile