Canonical Allele Identifier: CA708522222

Gene: MLH3

Linked Data

• dbSNP Id: rs1469167258
• gnomAD v3: 14-75013858-C-T
• gnomAD v4: 14-75013858-C-T
• MyVariant Identifiers: chr14:g.75480561C>T (hg19) ; chr14:g.75013858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75013858C>T , CM000676.2:g.75013858C>T	GRCh38
NC_000014.8:g.75480561C>T , CM000676.1:g.75480561C>T	GRCh37
NC_000014.7:g.74550314C>T	NCBI36
NG_008649.1:g.42675G>A , LRG_217:g.42675G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355774.7:c.*3224G>A MANE Select	ENSP00000348020.2:n.*3224G>A
ENST00000355774.6:c.*3224G>A	ENSP00000348020.2:n.*3224G>A
ENST00000380968.6:c.*3224G>A	ENSP00000370355.3:n.*3224G>A
NM_001040108.1:c.*3224G>A , LRG_217t1:c.*3224G>A	NP_001035197.1:n.*3224G>A
NM_014381.2:c.*3224G>A	NP_055196.2:n.*3224G>A
XR_245681.2:n.6657G>A
XM_005267532.5:c.*3224G>A	XP_005267589.1:n.*3224G>A
XM_005267533.5:c.*3224G>A	XP_005267590.1:n.*3224G>A
XM_011536646.3:c.*3224G>A	XP_011534948.1:n.*3224G>A
XM_024449538.1:c.*3224G>A	XP_024305306.1:n.*3224G>A
XM_024449539.1:c.*3224G>A	XP_024305307.1:n.*3224G>A
XR_001750229.2:n.6512G>A
XR_245681.4:n.6604G>A
NM_001040108.2:c.*3224G>A MANE Select	NP_001035197.1:n.*3224G>A
NM_014381.3:c.*3224G>A	NP_055196.2:n.*3224G>A