Canonical Allele Identifier: CA121295044

Gene: MSH3

Linked Data

• dbSNP Id: rs573008523
• gnomAD v2: 5-79970691-G-T
• gnomAD v3: 5-80674872-G-T
• gnomAD v4: 5-80674872-G-T
• MyVariant Identifiers: chr5:g.79970691G>T (hg19) ; chr5:g.80674872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80674872G>T , CM000667.2:g.80674872G>T	GRCh38
NC_000005.9:g.79970691G>T , CM000667.1:g.79970691G>T	GRCh37
NC_000005.8:g.80006447G>T	NCBI36
NG_016607.1:g.25398G>T
NG_016607.2:g.25398G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1028-111G>T MANE Select	ENSP00000265081.6:n.1028-111G>T
ENST00000658259.1:c.860-111G>T	ENSP00000499617.1:n.860-111G>T
ENST00000667069.1:c.1028-111G>T	ENSP00000499502.1:n.1028-111G>T
ENST00000670357.1:c.1028-111G>T	ENSP00000499791.1:n.1028-111G>T
ENST00000265081.6:c.1028-111G>T	ENSP00000265081.6:n.1028-111G>T
NM_002439.4:c.1028-111G>T	NP_002430.3:n.1028-111G>T
NM_002439.5:c.1028-111G>T MANE Select	NP_002430.3:n.1028-111G>T