Canonical Allele Identifier: CA360346809

Gene: MSH3

Linked Data

• MyVariant Identifiers: chr5:g.80168947A>T (hg19) ; chr5:g.80873128A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80873128A>T , CM000667.2:g.80873128A>T	GRCh38
NC_000005.9:g.80168947A>T , CM000667.1:g.80168947A>T	GRCh37
NC_000005.8:g.80204703A>T	NCBI36
NG_016607.1:g.223654A>T
NG_016607.2:g.223654A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265081.7:c.3143A>T MANE Select	ENSP00000265081.6:p.Gln1048Leu
ENST00000658259.1:c.2975A>T	ENSP00000499617.1:p.Gln992Leu
ENST00000659302.1:c.551A>T
ENST00000667069.1:c.2948A>T	ENSP00000499502.1:p.Gln983Leu
ENST00000670357.1:c.*467A>T	ENSP00000499791.1:n.*467A>T
ENST00000265081.6:c.3143A>T	ENSP00000265081.6:p.Gln1048Leu
NM_002439.4:c.3143A>T	NP_002430.3:p.Gln1048Leu
NM_002439.5:c.3143A>T MANE Select	NP_002430.3:p.Gln1048Leu