Canonical Allele Identifier: CA10165928
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs757952218
ExAC: 22:28146896 T / C
gnomAD v2: 22-28146896-T-C
gnomAD v4: 22-27750908-T-C
MyVariant Identifiers: chr22:g.28146896T>C (hg19) chr22:g.27750908T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750908T>C , CM000684.2:g.27750908T>C GRCh38
NC_000022.10:g.28146896T>C , CM000684.1:g.28146896T>C GRCh37
NC_000022.9:g.26476896T>C NCBI36
NG_023258.1:g.55591A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.495A>G
ENST00000302326.5:c.*7A>G MANE Select ENSP00000304956.4:n.*7A>G
ENST00000302326.4:c.*7A>G ENSP00000304956.4:n.*7A>G
ENST00000424656.1:c.323A>G
ENST00000497225.1:n.326A>G
NM_002430.2:c.*7A>G NP_002421.3:n.*7A>G
NM_002430.3:c.*7A>G MANE Select NP_002421.3:n.*7A>G
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