Canonical Allele Identifier: CA752089922
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1314427834
gnomAD v4: 22-27750624-G-A
MyVariant Identifiers: chr22:g.28146612G>A (hg19) chr22:g.27750624G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750624G>A , CM000684.2:g.27750624G>A GRCh38
NC_000022.10:g.28146612G>A , CM000684.1:g.28146612G>A GRCh37
NC_000022.9:g.26476612G>A NCBI36
NG_023258.1:g.55875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.779C>T
ENST00000302326.5:c.*291C>T MANE Select ENSP00000304956.4:n.*291C>T
ENST00000302326.4:c.*291C>T ENSP00000304956.4:n.*291C>T
ENST00000424656.1:c.455+152C>T
NM_002430.2:c.*291C>T NP_002421.3:n.*291C>T
NM_002430.3:c.*291C>T MANE Select NP_002421.3:n.*291C>T
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