Canonical Allele Identifier: CA3327814
Gene: MSH3 HGNC NCBI

Linked Data

dbSNP Id: rs561642413
gnomAD v2: 5-79970971-C-T
gnomAD v3: 5-80675152-C-T
gnomAD v4: 5-80675152-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80675152C>T , CM000667.2:g.80675152C>T GRCh38
NC_000005.9:g.79970971C>T , CM000667.1:g.79970971C>T GRCh37
NC_000005.8:g.80006727C>T NCBI36
NG_016607.1:g.25678C>T
NG_016607.2:g.25678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.1173+24C>T MANE Select ENSP00000265081.6:n.1173+24C>T
ENST00000658259.1:c.1005+24C>T ENSP00000499617.1:n.1005+24C>T
ENST00000667069.1:c.1173+24C>T ENSP00000499502.1:n.1173+24C>T
ENST00000670357.1:c.1173+24C>T ENSP00000499791.1:n.1173+24C>T
ENST00000265081.6:c.1173+24C>T ENSP00000265081.6:n.1173+24C>T
NM_002439.4:c.1173+24C>T NP_002430.3:n.1173+24C>T
NM_002439.5:c.1173+24C>T MANE Select NP_002430.3:n.1173+24C>T