Canonical Allele Identifier: CA360268404

Gene: MSH3

Linked Data

• ClinVar Variation Id: 936954
• ClinVar RCV Id: RCV001205876
• dbSNP Id: rs1749812234
• MyVariant Identifiers: chr5:g.79970940G>T (hg19) ; chr5:g.80675121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80675121G>T , CM000667.2:g.80675121G>T	GRCh38
NC_000005.9:g.79970940G>T , CM000667.1:g.79970940G>T	GRCh37
NC_000005.8:g.80006696G>T	NCBI36
NG_016607.1:g.25647G>T
NG_016607.2:g.25647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1166G>T MANE Select	ENSP00000265081.6:p.Gly389Val
ENST00000658259.1:c.998G>T	ENSP00000499617.1:p.Gly333Val
ENST00000667069.1:c.1166G>T	ENSP00000499502.1:p.Gly389Val
ENST00000670357.1:c.1166G>T	ENSP00000499791.1:p.Gly389Val
ENST00000265081.6:c.1166G>T	ENSP00000265081.6:p.Gly389Val
NM_002439.4:c.1166G>T	NP_002430.3:p.Gly389Val
NM_002439.5:c.1166G>T MANE Select	NP_002430.3:p.Gly389Val