Canonical Allele Identifier: CA3327785

Gene: MSH3

Linked Data

• dbSNP Id: rs760799464
• ExAC: 5:79970815 A / T
• MyVariant Identifiers: chr5:g.79970815A>T (hg19) ; chr5:g.80674996A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80674996A>T , CM000667.2:g.80674996A>T	GRCh38
NC_000005.9:g.79970815A>T , CM000667.1:g.79970815A>T	GRCh37
NC_000005.8:g.80006571A>T	NCBI36
NG_016607.1:g.25522A>T
NG_016607.2:g.25522A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1041A>T MANE Select	ENSP00000265081.6:p.Leu347=
ENST00000658259.1:c.873A>T	ENSP00000499617.1:p.Leu291=
ENST00000667069.1:c.1041A>T	ENSP00000499502.1:p.Leu347=
ENST00000670357.1:c.1041A>T	ENSP00000499791.1:p.Leu347=
ENST00000265081.6:c.1041A>T	ENSP00000265081.6:p.Leu347=
NM_002439.4:c.1041A>T	NP_002430.3:p.Leu347=
NM_002439.5:c.1041A>T MANE Select	NP_002430.3:p.Leu347=