Canonical Allele Identifier: CA10646112

Gene: MLH3

Linked Data

• ClinVar Variation Id: 314349
• ClinVar RCV Id: RCV000316823 ; RCV000339142 ; RCV001116684
• dbSNP Id: rs10134636
• gnomAD v2: 14-75480820-G-A
• gnomAD v3: 14-75014117-G-A
• gnomAD v4: 14-75014117-G-A
• MyVariant Identifiers: chr14:g.75480820G>A (hg19) ; chr14:g.75014117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75014117G>A , CM000676.2:g.75014117G>A	GRCh38
NC_000014.8:g.75480820G>A , CM000676.1:g.75480820G>A	GRCh37
NC_000014.7:g.74550573G>A	NCBI36
NG_008649.1:g.42416C>T , LRG_217:g.42416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.*2965C>T MANE Select	ENSP00000348020.2:n.*2965C>T
ENST00000355774.6:c.*2965C>T	ENSP00000348020.2:n.*2965C>T
ENST00000380968.6:c.*2965C>T	ENSP00000370355.3:n.*2965C>T
NM_001040108.1:c.*2965C>T , LRG_217t1:c.*2965C>T	NP_001035197.1:n.*2965C>T
NM_014381.2:c.*2965C>T	NP_055196.2:n.*2965C>T
XR_245681.2:n.6398C>T
XM_005267532.5:c.*2965C>T	XP_005267589.1:n.*2965C>T
XM_005267533.5:c.*2965C>T	XP_005267590.1:n.*2965C>T
XM_011536646.3:c.*2965C>T	XP_011534948.1:n.*2965C>T
XM_024449538.1:c.*2965C>T	XP_024305306.1:n.*2965C>T
XM_024449539.1:c.*2965C>T	XP_024305307.1:n.*2965C>T
XR_001750229.2:n.6253C>T
XR_245681.4:n.6345C>T
NM_001040108.2:c.*2965C>T MANE Select	NP_001035197.1:n.*2965C>T
NM_014381.3:c.*2965C>T	NP_055196.2:n.*2965C>T