Canonical Allele Identifier: CA390444974

Gene: MLH3

Linked Data

• dbSNP Id: rs2139580304
• MyVariant Identifiers: chr14:g.75514776C>A (hg19) ; chr14:g.75048073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75048073C>A , CM000676.2:g.75048073C>A	GRCh38
NC_000014.8:g.75514776C>A , CM000676.1:g.75514776C>A	GRCh37
NC_000014.7:g.74584529C>A	NCBI36
NG_008649.1:g.8460G>T , LRG_217:g.8460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.1583G>T MANE Select	ENSP00000348020.2:p.Trp528Leu
ENST00000355774.6:c.1583G>T	ENSP00000348020.2:p.Trp528Leu
ENST00000380968.6:c.1583G>T	ENSP00000370355.3:p.Trp528Leu
ENST00000556257.5:c.1583G>T	ENSP00000451540.1:p.Trp528Leu
ENST00000556740.5:c.1583G>T	ENSP00000452316.1:p.Trp528Leu
NM_001040108.1:c.1583G>T , LRG_217t1:c.1583G>T	NP_001035197.1:p.Trp528Leu
NM_014381.2:c.1583G>T	NP_055196.2:p.Trp528Leu
XM_005267531.3:c.1583G>T	XP_005267588.1:p.Trp528Leu
XM_005267532.3:c.1583G>T	XP_005267589.1:p.Trp528Leu
XM_005267533.3:c.1583G>T	XP_005267590.1:p.Trp528Leu
XM_005267534.2:c.1583G>T	XP_005267591.1:p.Trp528Leu
XM_006720116.2:c.1583G>T	XP_006720179.1:p.Trp528Leu
XM_011536646.1:c.1583G>T	XP_011534948.1:p.Trp528Leu
XM_011536647.1:c.1583G>T	XP_011534949.1:p.Trp528Leu
XM_011536648.1:c.1583G>T	XP_011534950.1:p.Trp528Leu
XR_245681.2:n.1799G>T
XM_005267532.5:c.1583G>T	XP_005267589.1:p.Trp528Leu
XM_005267533.5:c.1583G>T	XP_005267590.1:p.Trp528Leu
XM_005267534.3:c.1583G>T	XP_005267591.1:p.Trp528Leu
XM_006720116.4:c.1583G>T	XP_006720179.1:p.Trp528Leu
XM_011536646.3:c.1583G>T	XP_011534948.1:p.Trp528Leu
XM_017021219.2:c.1583G>T	XP_016876708.1:p.Trp528Leu
XM_024449538.1:c.1583G>T	XP_024305306.1:p.Trp528Leu
XR_001750225.2:n.1746G>T
XR_001750227.2:n.1746G>T
XR_001750228.2:n.1746G>T
XR_001750229.2:n.1746G>T
XR_001750230.2:n.1746G>T
XR_002957544.1:n.1746G>T
XR_245681.4:n.1746G>T
NM_001040108.2:c.1583G>T MANE Select	NP_001035197.1:p.Trp528Leu
NM_014381.3:c.1583G>T	NP_055196.2:p.Trp528Leu