Canonical Allele Identifier: CA445225424

Gene: MSH3

Linked Data

• ClinVar Variation Id: 1159554
• ClinVar RCV Id: RCV001503355
• dbSNP Id: rs2112128581
• MyVariant Identifiers: chr5:g.80168942A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873123A>G , CM000667.2:g.80873123A>G	GRCh38
NC_000005.9:g.80168942A>G , CM000667.1:g.80168942A>G	GRCh37
NC_000005.8:g.80204698A>G	NCBI36
NG_016607.1:g.223649A>G
NG_016607.2:g.223649A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.3138A>G MANE Select	ENSP00000265081.6:p.Ala1046=
ENST00000658259.1:c.2970A>G	ENSP00000499617.1:p.Ala990=
ENST00000659302.1:c.546A>G
ENST00000667069.1:c.2943A>G	ENSP00000499502.1:p.Ala981=
ENST00000670357.1:c.*462A>G	ENSP00000499791.1:n.*462A>G
ENST00000265081.6:c.3138A>G	ENSP00000265081.6:p.Ala1046=
NM_002439.4:c.3138A>G	NP_002430.3:p.Ala1046=
NM_002439.5:c.3138A>G MANE Select	NP_002430.3:p.Ala1046=