Canonical Allele Identifier: CA752090055
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1445457283
gnomAD v4: 22-27750839-G-T
MyVariant Identifiers: chr22:g.28146827G>T (hg19) chr22:g.27750839G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750839G>T , CM000684.2:g.27750839G>T GRCh38
NC_000022.10:g.28146827G>T , CM000684.1:g.28146827G>T GRCh37
NC_000022.9:g.26476827G>T NCBI36
NG_023258.1:g.55660C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.564C>A
ENST00000302326.5:c.*76C>A MANE Select ENSP00000304956.4:n.*76C>A
ENST00000302326.4:c.*76C>A ENSP00000304956.4:n.*76C>A
ENST00000424656.1:c.392C>A
ENST00000497225.1:n.395C>A
NM_002430.2:c.*76C>A NP_002421.3:n.*76C>A
NM_002430.3:c.*76C>A MANE Select NP_002421.3:n.*76C>A
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