Canonical Allele Identifier: CA3327529
Gene: MSH3 HGNC NCBI
DHFR HGNC NCBI
COSMIC:
COSM4160035 (not active)
MyVariant.info:
GRCh38 chr5:g.80654962A>G
GRCh37 chr5:g.79950781A>G
Revel Score:
ENST00000265081 (MANE Select) 0.242
ENST00000535995 0.242
gnomAD v2:
5:79950781 A / G
gnomAD v3:
5:80654962 A / G
gnomAD v4:
chr5-80654962-A-G
Joint Max Group AF 0.91285268 (AFR)
Genomes Max Group AF 0.90517912 (AFR)
Exomes Max Group AF 0.91829493 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654962A>G , CM000667.2:g.80654962A>G GRCh38
NC_000005.9:g.79950781A>G , CM000667.1:g.79950781A>G GRCh37
NC_000005.8:g.79986537A>G NCBI36
NG_016607.1:g.5488A>G
NG_023304.1:g.5020T>C
NG_016607.2:g.5488A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.235A>G (MSH3) MANE Select ENSP00000265081.6:p.Ile79Val
ENST00000439211.7:c.-473T>C (DHFR) MANE Select ENSP00000396308.2:n.-473T>C
ENST00000667069.1:c.235A>G (MSH3) ENSP00000499502.1:p.Ile79Val
ENST00000670357.1:c.235A>G (MSH3) ENSP00000499791.1:p.Ile79Val
ENST00000265081.6:c.235A>G (MSH3) ENSP00000265081.6:p.Ile79Val
ENST00000439211.6:c.-473T>C (DHFR) ENSP00000396308.2:n.-473T>C
NM_000791.3:c.-473T>C (DHFR) NP_000782.1:n.-473T>C
NM_001290354.1:c.-579T>C (DHFR) NP_001277283.1:n.-579T>C
NM_001290357.1:c.-473T>C (DHFR) NP_001277286.1:n.-473T>C
NM_002439.4:c.235A>G (MSH3) NP_002430.3:p.Ile79Val
NR_110936.1:n.20T>C (DHFR)
NM_000791.4:c.-473T>C (DHFR) MANE Select NP_000782.1:n.-473T>C
NM_002439.5:c.235A>G (MSH3) MANE Select NP_002430.3:p.Ile79Val
NM_001290354.2:c.-579T>C (DHFR) NP_001277283.1:n.-579T>C
NM_001290357.2:c.-473T>C (DHFR) NP_001277286.1:n.-473T>C
NR_110936.2:n.22T>C (DHFR)
Search 100 bp 5'
Search 100 bp 3'