Canonical Allele Identifier: CA322870608
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs890816562
gnomAD v3: 22-27750637-G-C
gnomAD v4: 22-27750637-G-C
MyVariant Identifiers: chr22:g.28146625G>C (hg19) chr22:g.27750637G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750637G>C , CM000684.2:g.27750637G>C GRCh38
NC_000022.10:g.28146625G>C , CM000684.1:g.28146625G>C GRCh37
NC_000022.9:g.26476625G>C NCBI36
NG_023258.1:g.55862C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.766C>G
ENST00000302326.5:c.*278C>G MANE Select ENSP00000304956.4:n.*278C>G
ENST00000302326.4:c.*278C>G ENSP00000304956.4:n.*278C>G
ENST00000424656.1:c.455+139C>G
NM_002430.2:c.*278C>G NP_002421.3:n.*278C>G
NM_002430.3:c.*278C>G MANE Select NP_002421.3:n.*278C>G
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