Canonical Allele Identifier: CA964775429

Gene: MLH3

Linked Data

• dbSNP Id: rs1889766417
• gnomAD v3: 14-75013868-A-G
• gnomAD v4: 14-75013868-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75013868A>G , CM000676.2:g.75013868A>G	GRCh38
NC_000014.8:g.75480571A>G , CM000676.1:g.75480571A>G	GRCh37
NC_000014.7:g.74550324A>G	NCBI36
NG_008649.1:g.42665T>C , LRG_217:g.42665T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355774.7:c.*3214T>C MANE Select	ENSP00000348020.2:n.*3214T>C
ENST00000355774.6:c.*3214T>C	ENSP00000348020.2:n.*3214T>C
ENST00000380968.6:c.*3214T>C	ENSP00000370355.3:n.*3214T>C
NM_001040108.1:c.*3214T>C , LRG_217t1:c.*3214T>C	NP_001035197.1:n.*3214T>C
NM_014381.2:c.*3214T>C	NP_055196.2:n.*3214T>C
XR_245681.2:n.6647T>C
XM_005267532.5:c.*3214T>C	XP_005267589.1:n.*3214T>C
XM_005267533.5:c.*3214T>C	XP_005267590.1:n.*3214T>C
XM_011536646.3:c.*3214T>C	XP_011534948.1:n.*3214T>C
XM_024449538.1:c.*3214T>C	XP_024305306.1:n.*3214T>C
XM_024449539.1:c.*3214T>C	XP_024305307.1:n.*3214T>C
XR_001750229.2:n.6502T>C
XR_245681.4:n.6594T>C
NM_001040108.2:c.*3214T>C MANE Select	NP_001035197.1:n.*3214T>C
NM_014381.3:c.*3214T>C	NP_055196.2:n.*3214T>C