Canonical Allele Identifier: CA360268352
Gene: MSH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 861175
ClinVar RCV Id: RCV001067638
dbSNP Id: rs1362828312
gnomAD v2: 5-79970928-A-G
gnomAD v3: 5-80675109-A-G
gnomAD v4: 5-80675109-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675109A>G , CM000667.2:g.80675109A>G GRCh38
NC_000005.9:g.79970928A>G , CM000667.1:g.79970928A>G GRCh37
NC_000005.8:g.80006684A>G NCBI36
NG_016607.1:g.25635A>G
NG_016607.2:g.25635A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1154A>G MANE Select ENSP00000265081.6:p.Asn385Ser
ENST00000658259.1:c.986A>G ENSP00000499617.1:p.Asn329Ser
ENST00000667069.1:c.1154A>G ENSP00000499502.1:p.Asn385Ser
ENST00000670357.1:c.1154A>G ENSP00000499791.1:p.Asn385Ser
ENST00000265081.6:c.1154A>G ENSP00000265081.6:p.Asn385Ser
NM_002439.4:c.1154A>G NP_002430.3:p.Asn385Ser
NM_002439.5:c.1154A>G MANE Select NP_002430.3:p.Asn385Ser