Canonical Allele Identifier: CA121295000

Gene: MSH3

Linked Data

• dbSNP Id: rs1650646
• gnomAD v2: 5-79970645-C-T
• gnomAD v3: 5-80674826-C-T
• gnomAD v4: 5-80674826-C-T
• MyVariant Identifiers: chr5:g.79970645C>T (hg19) ; chr5:g.80674826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80674826C>T , CM000667.2:g.80674826C>T	GRCh38
NC_000005.9:g.79970645C>T , CM000667.1:g.79970645C>T	GRCh37
NC_000005.8:g.80006401C>T	NCBI36
NG_016607.1:g.25352C>T
NG_016607.2:g.25352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.1028-157C>T MANE Select	ENSP00000265081.6:n.1028-157C>T
ENST00000658259.1:c.860-157C>T	ENSP00000499617.1:n.860-157C>T
ENST00000667069.1:c.1028-157C>T	ENSP00000499502.1:n.1028-157C>T
ENST00000670357.1:c.1028-157C>T	ENSP00000499791.1:n.1028-157C>T
ENST00000265081.6:c.1028-157C>T	ENSP00000265081.6:n.1028-157C>T
NM_002439.4:c.1028-157C>T	NP_002430.3:n.1028-157C>T
NM_002439.5:c.1028-157C>T MANE Select	NP_002430.3:n.1028-157C>T