Canonical Allele Identifier: CA354901
Gene: MSMO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222974
ClinVar RCV Id: RCV000208581
dbSNP Id: rs869025576
MyVariant Identifiers: chr4:g.166259918T>A (hg19) chr4:g.165338766T>A (hg38)
PubMed: PMID:21285510
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.165338766T>A , CM000666.2:g.165338766T>A GRCh38
NC_000004.11:g.166259918T>A , CM000666.1:g.166259918T>A GRCh37
NC_000004.10:g.166479368T>A NCBI36
NG_042288.1:g.16101T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261507.11:c.519T>A MANE Select ENSP00000261507.6:p.His173Gln
ENST00000261507.10:c.519T>A ENSP00000261507.6:p.His173Gln
ENST00000393766.6:c.126T>A ENSP00000377361.2:p.His42Gln
ENST00000504317.1:c.519T>A ENSP00000423633.1:p.His173Gln
ENST00000507013.5:c.519T>A ENSP00000425241.1:p.His173Gln
NM_001017369.2:c.126T>A NP_001017369.1:p.His42Gln
NM_006745.4:c.519T>A NP_006736.1:p.His173Gln
XM_005263176.1:c.519T>A XP_005263233.1:p.His173Gln
XM_005263176.2:c.519T>A XP_005263233.1:p.His173Gln
NM_006745.5:c.519T>A MANE Select NP_006736.1:p.His173Gln
NM_001017369.3:c.126T>A NP_001017369.1:p.His42Gln
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