Canonical Allele Identifier: CA7275688

Gene: MLH3

Linked Data

• ClinVar Variation Id: 257252
• ClinVar RCV Id: RCV000253289 ; RCV000385582 ; RCV001711553 ; RCV002429185
• dbSNP Id: rs175080
• ExAC: 14:75513828 G / A
• gnomAD v2: 14-75513828-G-A
• gnomAD v3: 14-75047125-G-A
• gnomAD v4: 14-75047125-G-A
• MyVariant Identifiers: chr14:g.75513828G>A (hg19) ; chr14:g.75047125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75047125G>A , CM000676.2:g.75047125G>A	GRCh38
NC_000014.8:g.75513828G>A , CM000676.1:g.75513828G>A	GRCh37
NC_000014.7:g.74583581G>A	NCBI36
NG_008649.1:g.9408C>T , LRG_217:g.9408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355774.7:c.2531C>T MANE Select	ENSP00000348020.2:p.Pro844Leu
ENST00000355774.6:c.2531C>T	ENSP00000348020.2:p.Pro844Leu
ENST00000380968.6:c.2531C>T	ENSP00000370355.3:p.Pro844Leu
ENST00000555671.1:n.77C>T
ENST00000556257.5:c.2531C>T	ENSP00000451540.1:p.Pro844Leu
ENST00000556740.5:c.2531C>T	ENSP00000452316.1:p.Pro844Leu
NM_001040108.1:c.2531C>T , LRG_217t1:c.2531C>T	NP_001035197.1:p.Pro844Leu
NM_014381.2:c.2531C>T	NP_055196.2:p.Pro844Leu
XM_005267531.3:c.2531C>T	XP_005267588.1:p.Pro844Leu
XM_005267532.3:c.2531C>T	XP_005267589.1:p.Pro844Leu
XM_005267533.3:c.2531C>T	XP_005267590.1:p.Pro844Leu
XM_005267534.2:c.2531C>T	XP_005267591.1:p.Pro844Leu
XM_006720116.2:c.2531C>T	XP_006720179.1:p.Pro844Leu
XM_011536646.1:c.2531C>T	XP_011534948.1:p.Pro844Leu
XM_011536647.1:c.2531C>T	XP_011534949.1:p.Pro844Leu
XM_011536648.1:c.2531C>T	XP_011534950.1:p.Pro844Leu
XR_245681.2:n.2747C>T
XM_005267532.5:c.2531C>T	XP_005267589.1:p.Pro844Leu
XM_005267533.5:c.2531C>T	XP_005267590.1:p.Pro844Leu
XM_005267534.3:c.2531C>T	XP_005267591.1:p.Pro844Leu
XM_006720116.4:c.2531C>T	XP_006720179.1:p.Pro844Leu
XM_011536646.3:c.2531C>T	XP_011534948.1:p.Pro844Leu
XM_017021219.2:c.2531C>T	XP_016876708.1:p.Pro844Leu
XM_024449538.1:c.2531C>T	XP_024305306.1:p.Pro844Leu
XR_001750225.2:n.2694C>T
XR_001750227.2:n.2694C>T
XR_001750228.2:n.2694C>T
XR_001750229.2:n.2694C>T
XR_001750230.2:n.2694C>T
XR_002957544.1:n.2694C>T
XR_245681.4:n.2694C>T
NM_001040108.2:c.2531C>T MANE Select	NP_001035197.1:p.Pro844Leu
NM_014381.3:c.2531C>T	NP_055196.2:p.Pro844Leu