Canonical Allele Identifier: CA752089884
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1427229133
gnomAD v4: 22-27750598-T-C
MyVariant Identifiers: chr22:g.28146586T>C (hg19) chr22:g.27750598T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750598T>C , CM000684.2:g.27750598T>C GRCh38
NC_000022.10:g.28146586T>C , CM000684.1:g.28146586T>C GRCh37
NC_000022.9:g.26476586T>C NCBI36
NG_023258.1:g.55901A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.805A>G
ENST00000302326.5:c.*317A>G MANE Select ENSP00000304956.4:n.*317A>G
ENST00000302326.4:c.*317A>G ENSP00000304956.4:n.*317A>G
ENST00000424656.1:c.455+178A>G
NM_002430.2:c.*317A>G NP_002421.3:n.*317A>G
NM_002430.3:c.*317A>G MANE Select NP_002421.3:n.*317A>G
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