Canonical Allele Identifier: CA752089898
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1219079618
gnomAD v3: 22-27750606-C-T
gnomAD v4: 22-27750606-C-T
MyVariant Identifiers: chr22:g.28146594C>T (hg19) chr22:g.27750606C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750606C>T , CM000684.2:g.27750606C>T GRCh38
NC_000022.10:g.28146594C>T , CM000684.1:g.28146594C>T GRCh37
NC_000022.9:g.26476594C>T NCBI36
NG_023258.1:g.55893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.797G>A
ENST00000302326.5:c.*309G>A MANE Select ENSP00000304956.4:n.*309G>A
ENST00000302326.4:c.*309G>A ENSP00000304956.4:n.*309G>A
ENST00000424656.1:c.455+170G>A
NM_002430.2:c.*309G>A NP_002421.3:n.*309G>A
NM_002430.3:c.*309G>A MANE Select NP_002421.3:n.*309G>A
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