Canonical Allele Identifier: CA752090085
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1359984523
gnomAD v4: 22-27750868-C-G
MyVariant Identifiers: chr22:g.28146856C>G (hg19) chr22:g.27750868C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750868C>G , CM000684.2:g.27750868C>G GRCh38
NC_000022.10:g.28146856C>G , CM000684.1:g.28146856C>G GRCh37
NC_000022.9:g.26476856C>G NCBI36
NG_023258.1:g.55631G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.535G>C
ENST00000302326.5:c.*47G>C MANE Select ENSP00000304956.4:n.*47G>C
ENST00000302326.4:c.*47G>C ENSP00000304956.4:n.*47G>C
ENST00000424656.1:c.363G>C
ENST00000497225.1:n.366G>C
NM_002430.2:c.*47G>C NP_002421.3:n.*47G>C
NM_002430.3:c.*47G>C MANE Select NP_002421.3:n.*47G>C
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