Canonical Allele Identifier: CA3328469
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 822974
ClinVar RCV Id: RCV001018781 RCV001048542
dbSNP Id: rs144603433
ExAC: 5:80168940 G / A
gnomAD v2: 5-80168940-G-A
gnomAD v3: 5-80873121-G-A
gnomAD v4: 5-80873121-G-A
MyVariant Identifiers: chr5:g.80168940G>A (hg19) chr5:g.80873121G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80873121G>A , CM000667.2:g.80873121G>A GRCh38
NC_000005.9:g.80168940G>A , CM000667.1:g.80168940G>A GRCh37
NC_000005.8:g.80204696G>A NCBI36
NG_016607.1:g.223647G>A
NG_016607.2:g.223647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.3136G>A MANE Select ENSP00000265081.6:p.Ala1046Thr
ENST00000658259.1:c.2968G>A ENSP00000499617.1:p.Ala990Thr
ENST00000659302.1:c.544G>A
ENST00000667069.1:c.2941G>A ENSP00000499502.1:p.Ala981Thr
ENST00000670357.1:c.*460G>A ENSP00000499791.1:n.*460G>A
ENST00000265081.6:c.3136G>A ENSP00000265081.6:p.Ala1046Thr
NM_002439.4:c.3136G>A NP_002430.3:p.Ala1046Thr
NM_002439.5:c.3136G>A MANE Select NP_002430.3:p.Ala1046Thr
Search 100 bp 5'
Search 100 bp 3'