Canonical Allele Identifier: CA322870556
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs981016979
gnomAD v4: 22-27750458-A-C
MyVariant Identifiers: chr22:g.28146446A>C (hg19) chr22:g.27750458A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750458A>C , CM000684.2:g.27750458A>C GRCh38
NC_000022.10:g.28146446A>C , CM000684.1:g.28146446A>C GRCh37
NC_000022.9:g.26476446A>C NCBI36
NG_023258.1:g.56041T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.945T>G
ENST00000302326.5:c.*457T>G MANE Select ENSP00000304956.4:n.*457T>G
ENST00000302326.4:c.*457T>G ENSP00000304956.4:n.*457T>G
ENST00000424656.1:c.456-230T>G
NM_002430.2:c.*457T>G NP_002421.3:n.*457T>G
NM_002430.3:c.*457T>G MANE Select NP_002421.3:n.*457T>G
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