Canonical Allele Identifier: CA10586320
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 253325
ClinVar RCV Id: RCV000240037 RCV001015164 RCV000801200 RCV003463710
dbSNP Id: rs866260675
gnomAD v4: 5-80778719-G-A
MyVariant Identifiers: chr5:g.80074538G>A (hg19) chr5:g.80778719G>A (hg38)
PubMed: PMID:27476653
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80778719G>A , CM000667.2:g.80778719G>A GRCh38
NC_000005.9:g.80074538G>A , CM000667.1:g.80074538G>A GRCh37
NC_000005.8:g.80110294G>A NCBI36
NG_016607.1:g.129245G>A
NG_016607.2:g.129245G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.2319-1G>A MANE Select ENSP00000265081.6:n.2319-1G>A
ENST00000658259.1:c.2151-1G>A ENSP00000499617.1:n.2151-1G>A
ENST00000667069.1:c.2124-1G>A ENSP00000499502.1:n.2124-1G>A
ENST00000670357.1:c.2319-1G>A ENSP00000499791.1:n.2319-1G>A
ENST00000265081.6:c.2319-1G>A ENSP00000265081.6:n.2319-1G>A
NM_002439.4:c.2319-1G>A NP_002430.3:n.2319-1G>A
NM_002439.5:c.2319-1G>A MANE Select NP_002430.3:n.2319-1G>A
Search 100 bp 5'
Search 100 bp 3'