Canonical Allele Identifier: CA513939305
Gene: MN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.28147023C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751035C>T , CM000684.2:g.27751035C>T GRCh38
NC_000022.10:g.28147023C>T , CM000684.1:g.28147023C>T GRCh37
NC_000022.9:g.26477023C>T NCBI36
NG_023258.1:g.55464G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.368G>A
ENST00000302326.5:c.3843G>A MANE Select ENSP00000304956.4:p.Leu1281=
ENST00000302326.4:c.3843G>A ENSP00000304956.4:p.Leu1281=
ENST00000424656.1:c.196G>A
ENST00000497225.1:n.199G>A
NM_002430.2:c.3843G>A NP_002421.3:p.Leu1281=
NM_002430.3:c.3843G>A MANE Select NP_002421.3:p.Leu1281=