Canonical Allele Identifier: CA10646128

Gene: MLH3

Linked Data

• ClinVar Variation Id: 314366
• ClinVar RCV Id: RCV000341396
• dbSNP Id: rs886050772
• gnomAD v2: 14-75482896-C-T
• gnomAD v3: 14-75016193-C-T
• gnomAD v4: 14-75016193-C-T
• MyVariant Identifiers: chr14:g.75482896C>T (hg19) ; chr14:g.75016193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75016193C>T , CM000676.2:g.75016193C>T	GRCh38
NC_000014.8:g.75482896C>T , CM000676.1:g.75482896C>T	GRCh37
NC_000014.7:g.74552649C>T	NCBI36
NG_008649.1:g.40340G>A , LRG_217:g.40340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.*889G>A MANE Select	ENSP00000348020.2:n.*889G>A
ENST00000355774.6:c.*889G>A	ENSP00000348020.2:n.*889G>A
ENST00000380968.6:c.*889G>A	ENSP00000370355.3:n.*889G>A
ENST00000554697.5:c.450-331G>A	ENSP00000451055.1:n.450-331G>A
NM_001040108.1:c.*889G>A , LRG_217t1:c.*889G>A	NP_001035197.1:n.*889G>A
NM_014381.2:c.*889G>A	NP_055196.2:n.*889G>A
XR_245681.2:n.4653-331G>A
XM_005267532.5:c.*889G>A	XP_005267589.1:n.*889G>A
XM_005267533.5:c.*889G>A	XP_005267590.1:n.*889G>A
XM_011536646.3:c.*889G>A	XP_011534948.1:n.*889G>A
XM_024449538.1:c.*889G>A	XP_024305306.1:n.*889G>A
XM_024449539.1:c.*889G>A	XP_024305307.1:n.*889G>A
XR_001750225.2:n.4528-331G>A
XR_001750229.2:n.4508-331G>A
XR_245681.4:n.4600-331G>A
NM_001040108.2:c.*889G>A MANE Select	NP_001035197.1:n.*889G>A
NM_014381.3:c.*889G>A	NP_055196.2:n.*889G>A