Canonical Allele Identifier: CA411033566
Gene: MN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751045A>C , CM000684.2:g.27751045A>C GRCh38
NC_000022.10:g.28147033A>C , CM000684.1:g.28147033A>C GRCh37
NC_000022.9:g.26477033A>C NCBI36
NG_023258.1:g.55454T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.358T>G
ENST00000302326.5:c.3833T>G MANE Select ENSP00000304956.4:p.Leu1278Trp
ENST00000302326.4:c.3833T>G ENSP00000304956.4:p.Leu1278Trp
ENST00000424656.1:c.186T>G
ENST00000497225.1:n.189T>G
NM_002430.2:c.3833T>G NP_002421.3:p.Leu1278Trp
NM_002430.3:c.3833T>G MANE Select NP_002421.3:p.Leu1278Trp