Canonical Allele Identifier: CA322870553
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1045967675
gnomAD v4: 22-27750452-G-A
MyVariant Identifiers: chr22:g.28146440G>A (hg19) chr22:g.27750452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750452G>A , CM000684.2:g.27750452G>A GRCh38
NC_000022.10:g.28146440G>A , CM000684.1:g.28146440G>A GRCh37
NC_000022.9:g.26476440G>A NCBI36
NG_023258.1:g.56047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.951C>T
ENST00000302326.5:c.*463C>T MANE Select ENSP00000304956.4:n.*463C>T
ENST00000302326.4:c.*463C>T ENSP00000304956.4:n.*463C>T
ENST00000424656.1:c.456-224C>T
NM_002430.2:c.*463C>T NP_002421.3:n.*463C>T
NM_002430.3:c.*463C>T MANE Select NP_002421.3:n.*463C>T
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