Canonical Allele Identifier: CA638787323
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1437885773
gnomAD v2: 22-28146523-G-A
gnomAD v3: 22-27750535-G-A
gnomAD v4: 22-27750535-G-A
MyVariant Identifiers: chr22:g.28146523G>A (hg19) chr22:g.27750535G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750535G>A , CM000684.2:g.27750535G>A GRCh38
NC_000022.10:g.28146523G>A , CM000684.1:g.28146523G>A GRCh37
NC_000022.9:g.26476523G>A NCBI36
NG_023258.1:g.55964C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.868C>T
ENST00000302326.5:c.*380C>T MANE Select ENSP00000304956.4:n.*380C>T
ENST00000302326.4:c.*380C>T ENSP00000304956.4:n.*380C>T
ENST00000424656.1:c.455+241C>T
NM_002430.2:c.*380C>T NP_002421.3:n.*380C>T
NM_002430.3:c.*380C>T MANE Select NP_002421.3:n.*380C>T
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