Canonical Allele Identifier: CA513939279
Gene: MN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.28146990G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751002G>A , CM000684.2:g.27751002G>A GRCh38
NC_000022.10:g.28146990G>A , CM000684.1:g.28146990G>A GRCh37
NC_000022.9:g.26476990G>A NCBI36
NG_023258.1:g.55497C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.401C>T
ENST00000302326.5:c.3876C>T MANE Select ENSP00000304956.4:p.Ala1292=
ENST00000302326.4:c.3876C>T ENSP00000304956.4:p.Ala1292=
ENST00000424656.1:c.229C>T
ENST00000497225.1:n.232C>T
NM_002430.2:c.3876C>T NP_002421.3:p.Ala1292=
NM_002430.3:c.3876C>T MANE Select NP_002421.3:p.Ala1292=