Canonical Allele Identifier: CA3327799

Gene: MSH3

Linked Data

• ClinVar Variation Id: 1627178
• ClinVar RCV Id: RCV002120790 ; RCV002454513
• dbSNP Id: rs748596644
• ExAC: 5:79970878 T / G
• gnomAD v2: 5-79970878-T-G
• gnomAD v3: 5-80675059-T-G
• gnomAD v4: 5-80675059-T-G
• MyVariant Identifiers: chr5:g.79970878T>G (hg19) ; chr5:g.80675059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80675059T>G , CM000667.2:g.80675059T>G	GRCh38
NC_000005.9:g.79970878T>G , CM000667.1:g.79970878T>G	GRCh37
NC_000005.8:g.80006634T>G	NCBI36
NG_016607.1:g.25585T>G
NG_016607.2:g.25585T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1104T>G MANE Select	ENSP00000265081.6:p.Leu368=
ENST00000658259.1:c.936T>G	ENSP00000499617.1:p.Leu312=
ENST00000667069.1:c.1104T>G	ENSP00000499502.1:p.Leu368=
ENST00000670357.1:c.1104T>G	ENSP00000499791.1:p.Leu368=
ENST00000265081.6:c.1104T>G	ENSP00000265081.6:p.Leu368=
NM_002439.4:c.1104T>G	NP_002430.3:p.Leu368=
NM_002439.5:c.1104T>G MANE Select	NP_002430.3:p.Leu368=