Canonical Allele Identifier: CA2625718879

Gene: MLH3

Linked Data

• gnomAD v4: 14-75013859-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75013859C>T , CM000676.2:g.75013859C>T	GRCh38
NC_000014.8:g.75480562C>T , CM000676.1:g.75480562C>T	GRCh37
NC_000014.7:g.74550315C>T	NCBI36
NG_008649.1:g.42674G>A , LRG_217:g.42674G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355774.7:c.*3223G>A MANE Select	ENSP00000348020.2:n.*3223G>A
ENST00000355774.6:c.*3223G>A	ENSP00000348020.2:n.*3223G>A
ENST00000380968.6:c.*3223G>A	ENSP00000370355.3:n.*3223G>A
NM_001040108.1:c.*3223G>A , LRG_217t1:c.*3223G>A	NP_001035197.1:n.*3223G>A
NM_014381.2:c.*3223G>A	NP_055196.2:n.*3223G>A
XR_245681.2:n.6656G>A
XM_005267532.5:c.*3223G>A	XP_005267589.1:n.*3223G>A
XM_005267533.5:c.*3223G>A	XP_005267590.1:n.*3223G>A
XM_011536646.3:c.*3223G>A	XP_011534948.1:n.*3223G>A
XM_024449538.1:c.*3223G>A	XP_024305306.1:n.*3223G>A
XM_024449539.1:c.*3223G>A	XP_024305307.1:n.*3223G>A
XR_001750229.2:n.6511G>A
XR_245681.4:n.6603G>A
NM_001040108.2:c.*3223G>A MANE Select	NP_001035197.1:n.*3223G>A
NM_014381.3:c.*3223G>A	NP_055196.2:n.*3223G>A