Canonical Allele Identifier: CA10644928

Gene: MLH3

Linked Data

• ClinVar Variation Id: 314353
• ClinVar RCV Id: RCV000403722
• dbSNP Id: rs886050768
• MyVariant Identifiers: chr14:g.75481699G>A (hg19) ; chr14:g.75014996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75014996G>A , CM000676.2:g.75014996G>A	GRCh38
NC_000014.8:g.75481699G>A , CM000676.1:g.75481699G>A	GRCh37
NC_000014.7:g.74551452G>A	NCBI36
NG_008649.1:g.41537C>T , LRG_217:g.41537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.*2086C>T MANE Select	ENSP00000348020.2:n.*2086C>T
ENST00000355774.6:c.*2086C>T	ENSP00000348020.2:n.*2086C>T
ENST00000380968.6:c.*2086C>T	ENSP00000370355.3:n.*2086C>T
NM_001040108.1:c.*2086C>T , LRG_217t1:c.*2086C>T	NP_001035197.1:n.*2086C>T
NM_014381.2:c.*2086C>T	NP_055196.2:n.*2086C>T
XR_245681.2:n.5519C>T
XM_005267532.5:c.*2086C>T	XP_005267589.1:n.*2086C>T
XM_005267533.5:c.*2086C>T	XP_005267590.1:n.*2086C>T
XM_011536646.3:c.*2086C>T	XP_011534948.1:n.*2086C>T
XM_024449538.1:c.*2086C>T	XP_024305306.1:n.*2086C>T
XM_024449539.1:c.*2086C>T	XP_024305307.1:n.*2086C>T
XR_001750225.2:n.5394C>T
XR_001750229.2:n.5374C>T
XR_245681.4:n.5466C>T
NM_001040108.2:c.*2086C>T MANE Select	NP_001035197.1:n.*2086C>T
NM_014381.3:c.*2086C>T	NP_055196.2:n.*2086C>T