Canonical Allele Identifier: CA752090031
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1030865973
gnomAD v4: 22-27750802-C-A
MyVariant Identifiers: chr22:g.28146790C>A (hg19) chr22:g.27750802C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750802C>A , CM000684.2:g.27750802C>A GRCh38
NC_000022.10:g.28146790C>A , CM000684.1:g.28146790C>A GRCh37
NC_000022.9:g.26476790C>A NCBI36
NG_023258.1:g.55697G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.601G>T
ENST00000302326.5:c.*113G>T MANE Select ENSP00000304956.4:n.*113G>T
ENST00000302326.4:c.*113G>T ENSP00000304956.4:n.*113G>T
ENST00000424656.1:c.429G>T
ENST00000497225.1:n.432G>T
NM_002430.2:c.*113G>T NP_002421.3:n.*113G>T
NM_002430.3:c.*113G>T MANE Select NP_002421.3:n.*113G>T
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Search 100 bp 3'