Canonical Allele Identifier: CA322870559
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs971018799
gnomAD v3: 22-27750471-G-T
gnomAD v4: 22-27750471-G-T
MyVariant Identifiers: chr22:g.28146459G>T (hg19) chr22:g.27750471G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750471G>T , CM000684.2:g.27750471G>T GRCh38
NC_000022.10:g.28146459G>T , CM000684.1:g.28146459G>T GRCh37
NC_000022.9:g.26476459G>T NCBI36
NG_023258.1:g.56028C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.932C>A
ENST00000302326.5:c.*444C>A MANE Select ENSP00000304956.4:n.*444C>A
ENST00000302326.4:c.*444C>A ENSP00000304956.4:n.*444C>A
ENST00000424656.1:c.456-243C>A
NM_002430.2:c.*444C>A NP_002421.3:n.*444C>A
NM_002430.3:c.*444C>A MANE Select NP_002421.3:n.*444C>A
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