Canonical Allele Identifier: CA3327788

Gene: MSH3

Linked Data

• ClinVar Variation Id: 944450
• ClinVar RCV Id: RCV001214850 ; RCV002402639
• dbSNP Id: rs373961048
• ExAC: 5:79970825 G / A
• gnomAD v2: 5-79970825-G-A
• gnomAD v3: 5-80675006-G-A
• gnomAD v4: 5-80675006-G-A
• MyVariant Identifiers: chr5:g.79970825G>A (hg19) ; chr5:g.80675006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80675006G>A , CM000667.2:g.80675006G>A	GRCh38
NC_000005.9:g.79970825G>A , CM000667.1:g.79970825G>A	GRCh37
NC_000005.8:g.80006581G>A	NCBI36
NG_016607.1:g.25532G>A
NG_016607.2:g.25532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1051G>A MANE Select	ENSP00000265081.6:p.Asp351Asn
ENST00000658259.1:c.883G>A	ENSP00000499617.1:p.Asp295Asn
ENST00000667069.1:c.1051G>A	ENSP00000499502.1:p.Asp351Asn
ENST00000670357.1:c.1051G>A	ENSP00000499791.1:p.Asp351Asn
ENST00000265081.6:c.1051G>A	ENSP00000265081.6:p.Asp351Asn
NM_002439.4:c.1051G>A	NP_002430.3:p.Asp351Asn
NM_002439.5:c.1051G>A MANE Select	NP_002430.3:p.Asp351Asn