Canonical Allele Identifier: CA411033661
Gene: MN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 812559
ClinVar RCV Id: RCV001003394 RCV001258021
dbSNP Id: rs1601319615
COSMIC: COSM1257846
MyVariant Identifiers: chr22:g.28147049G>A (hg19) chr22:g.27751061G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751061G>A , CM000684.2:g.27751061G>A GRCh38
NC_000022.10:g.28147049G>A , CM000684.1:g.28147049G>A GRCh37
NC_000022.9:g.26477049G>A NCBI36
NG_023258.1:g.55438C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.342C>T
ENST00000302326.5:c.3817C>T MANE Select ENSP00000304956.4:p.Gln1273Ter
ENST00000302326.4:c.3817C>T ENSP00000304956.4:p.Gln1273Ter
ENST00000424656.1:c.170C>T
ENST00000497225.1:n.173C>T
NM_002430.2:c.3817C>T NP_002421.3:p.Gln1273Ter
NM_002430.3:c.3817C>T MANE Select NP_002421.3:p.Gln1273Ter
Search 100 bp 5'
Search 100 bp 3'