Canonical Allele Identifier: CA360346793

Gene: MSH3

Linked Data

• MyVariant Identifiers: chr5:g.80168941C>A (hg19) ; chr5:g.80873122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873122C>A , CM000667.2:g.80873122C>A	GRCh38
NC_000005.9:g.80168941C>A , CM000667.1:g.80168941C>A	GRCh37
NC_000005.8:g.80204697C>A	NCBI36
NG_016607.1:g.223648C>A
NG_016607.2:g.223648C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.3137C>A MANE Select	ENSP00000265081.6:p.Ala1046Glu
ENST00000658259.1:c.2969C>A	ENSP00000499617.1:p.Ala990Glu
ENST00000659302.1:c.545C>A
ENST00000667069.1:c.2942C>A	ENSP00000499502.1:p.Ala981Glu
ENST00000670357.1:c.*461C>A	ENSP00000499791.1:n.*461C>A
ENST00000265081.6:c.3137C>A	ENSP00000265081.6:p.Ala1046Glu
NM_002439.4:c.3137C>A	NP_002430.3:p.Ala1046Glu
NM_002439.5:c.3137C>A MANE Select	NP_002430.3:p.Ala1046Glu