Canonical Allele Identifier: CA1078000396
Gene: MSH3 HGNC NCBI

Linked Data

dbSNP Id: rs1746248102
gnomAD v3: 5-80873032-T-C
gnomAD v4: 5-80873032-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80873032T>C , CM000667.2:g.80873032T>C GRCh38
NC_000005.9:g.80168851T>C , CM000667.1:g.80168851T>C GRCh37
NC_000005.8:g.80204607T>C NCBI36
NG_016607.1:g.223558T>C
NG_016607.2:g.223558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265081.7:c.3131-84T>C MANE Select ENSP00000265081.6:n.3131-84T>C
ENST00000658259.1:c.2963-84T>C ENSP00000499617.1:n.2963-84T>C
ENST00000659302.1:c.539-84T>C
ENST00000667069.1:c.2936-84T>C ENSP00000499502.1:n.2936-84T>C
ENST00000670357.1:c.*455-84T>C ENSP00000499791.1:n.*455-84T>C
ENST00000265081.6:c.3131-84T>C ENSP00000265081.6:n.3131-84T>C
NM_002439.4:c.3131-84T>C NP_002430.3:n.3131-84T>C
NM_002439.5:c.3131-84T>C MANE Select NP_002430.3:n.3131-84T>C
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