Canonical Allele Identifier: CA513939342
Gene: MN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.28147034A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751046A>G , CM000684.2:g.27751046A>G GRCh38
NC_000022.10:g.28147034A>G , CM000684.1:g.28147034A>G GRCh37
NC_000022.9:g.26477034A>G NCBI36
NG_023258.1:g.55453T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.357T>C
ENST00000302326.5:c.3832T>C MANE Select ENSP00000304956.4:p.Leu1278=
ENST00000302326.4:c.3832T>C ENSP00000304956.4:p.Leu1278=
ENST00000424656.1:c.185T>C
ENST00000497225.1:n.188T>C
NM_002430.2:c.3832T>C NP_002421.3:p.Leu1278=
NM_002430.3:c.3832T>C MANE Select NP_002421.3:p.Leu1278=