Canonical Allele Identifier: CA2399817849
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1601319130
gnomAD v4: 22-27750440-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750440A>G , CM000684.2:g.27750440A>G GRCh38
NC_000022.10:g.28146428A>G , CM000684.1:g.28146428A>G GRCh37
NC_000022.9:g.26476428A>G NCBI36
NG_023258.1:g.56059T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.963T>C
ENST00000302326.5:c.*475T>C MANE Select ENSP00000304956.4:n.*475T>C
ENST00000302326.4:c.*475T>C ENSP00000304956.4:n.*475T>C
ENST00000424656.1:c.456-212T>C
NM_002430.2:c.*475T>C NP_002421.3:n.*475T>C
NM_002430.3:c.*475T>C MANE Select NP_002421.3:n.*475T>C
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