Canonical Allele Identifier: CA322870686
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs551552845
gnomAD v2: 22-28146771-A-G
gnomAD v3: 22-27750783-A-G
gnomAD v4: 22-27750783-A-G
MyVariant Identifiers: chr22:g.28146771A>G (hg19) chr22:g.27750783A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750783A>G , CM000684.2:g.27750783A>G GRCh38
NC_000022.10:g.28146771A>G , CM000684.1:g.28146771A>G GRCh37
NC_000022.9:g.26476771A>G NCBI36
NG_023258.1:g.55716T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.620T>C
ENST00000302326.5:c.*132T>C MANE Select ENSP00000304956.4:n.*132T>C
ENST00000302326.4:c.*132T>C ENSP00000304956.4:n.*132T>C
ENST00000424656.1:c.448T>C
ENST00000497225.1:n.451T>C
NM_002430.2:c.*132T>C NP_002421.3:n.*132T>C
NM_002430.3:c.*132T>C MANE Select NP_002421.3:n.*132T>C
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