Canonical Allele Identifier: CA10165953
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs748318663
ExAC: 22:28147039 C / T
gnomAD v2: 22-28147039-C-T
gnomAD v3: 22-27751051-C-T
gnomAD v4: 22-27751051-C-T
MyVariant Identifiers: chr22:g.28147039C>T (hg19) chr22:g.27751051C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751051C>T , CM000684.2:g.27751051C>T GRCh38
NC_000022.10:g.28147039C>T , CM000684.1:g.28147039C>T GRCh37
NC_000022.9:g.26477039C>T NCBI36
NG_023258.1:g.55448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.352G>A
ENST00000302326.5:c.3827G>A MANE Select ENSP00000304956.4:p.Ser1276Asn
ENST00000302326.4:c.3827G>A ENSP00000304956.4:p.Ser1276Asn
ENST00000424656.1:c.180G>A
ENST00000497225.1:n.183G>A
NM_002430.2:c.3827G>A NP_002421.3:p.Ser1276Asn
NM_002430.3:c.3827G>A MANE Select NP_002421.3:p.Ser1276Asn
Search 100 bp 5'
Search 100 bp 3'