Canonical Allele Identifier: CA2625718867

Gene: MLH3

Linked Data

• gnomAD v4: 14-75013855-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75013855C>A , CM000676.2:g.75013855C>A	GRCh38
NC_000014.8:g.75480558C>A , CM000676.1:g.75480558C>A	GRCh37
NC_000014.7:g.74550311C>A	NCBI36
NG_008649.1:g.42678G>T , LRG_217:g.42678G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355774.7:c.*3227G>T MANE Select	ENSP00000348020.2:n.*3227G>T
ENST00000355774.6:c.*3227G>T	ENSP00000348020.2:n.*3227G>T
ENST00000380968.6:c.*3227G>T	ENSP00000370355.3:n.*3227G>T
NM_001040108.1:c.*3227G>T , LRG_217t1:c.*3227G>T	NP_001035197.1:n.*3227G>T
NM_014381.2:c.*3227G>T	NP_055196.2:n.*3227G>T
XR_245681.2:n.6660G>T
XM_005267532.5:c.*3227G>T	XP_005267589.1:n.*3227G>T
XM_005267533.5:c.*3227G>T	XP_005267590.1:n.*3227G>T
XM_011536646.3:c.*3227G>T	XP_011534948.1:n.*3227G>T
XM_024449538.1:c.*3227G>T	XP_024305306.1:n.*3227G>T
XM_024449539.1:c.*3227G>T	XP_024305307.1:n.*3227G>T
XR_001750229.2:n.6515G>T
XR_245681.4:n.6607G>T
NM_001040108.2:c.*3227G>T MANE Select	NP_001035197.1:n.*3227G>T
NM_014381.3:c.*3227G>T	NP_055196.2:n.*3227G>T