Canonical Allele Identifier: CA513939227
Gene: MN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.28146915A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750927A>C , CM000684.2:g.27750927A>C GRCh38
NC_000022.10:g.28146915A>C , CM000684.1:g.28146915A>C GRCh37
NC_000022.9:g.26476915A>C NCBI36
NG_023258.1:g.55572T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.476T>G
ENST00000302326.5:c.3951T>G MANE Select ENSP00000304956.4:p.Ala1317=
ENST00000302326.4:c.3951T>G ENSP00000304956.4:p.Ala1317=
ENST00000424656.1:c.304T>G
ENST00000497225.1:n.307T>G
NM_002430.2:c.3951T>G NP_002421.3:p.Ala1317=
NM_002430.3:c.3951T>G MANE Select NP_002421.3:p.Ala1317=