Canonical Allele Identifier: CA1024815490
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1932755132
gnomAD v3: 22-27750618-C-G
gnomAD v4: 22-27750618-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750618C>G , CM000684.2:g.27750618C>G GRCh38
NC_000022.10:g.28146606C>G , CM000684.1:g.28146606C>G GRCh37
NC_000022.9:g.26476606C>G NCBI36
NG_023258.1:g.55881G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.785G>C
ENST00000302326.5:c.*297G>C MANE Select ENSP00000304956.4:n.*297G>C
ENST00000302326.4:c.*297G>C ENSP00000304956.4:n.*297G>C
ENST00000424656.1:c.455+158G>C
NM_002430.2:c.*297G>C NP_002421.3:n.*297G>C
NM_002430.3:c.*297G>C MANE Select NP_002421.3:n.*297G>C
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