Canonical Allele Identifier: CA979716585
Gene: MPHOSPH6 HGNC NCBI

Linked Data

dbSNP Id: rs368835033
gnomAD v3: 16-82148504-A-G
gnomAD v4: 16-82148504-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82148504A>G , CM000678.2:g.82148504A>G GRCh38
NC_000016.9:g.82182109A>G , CM000678.1:g.82182109A>G GRCh37
NC_000016.8:g.80739610A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000258169.9:c.*227T>C MANE Select ENSP00000258169.4:n.*227T>C
ENST00000258169.8:c.*227T>C ENSP00000258169.4:n.*227T>C
ENST00000563100.5:c.*72+155T>C ENSP00000454996.1:n.*72+155T>C
NM_005792.2:c.*227T>C MANE Select NP_005783.2:n.*227T>C
XM_011522808.1:c.*227T>C XP_011521110.1:n.*227T>C
XM_011522808.3:c.*227T>C XP_011521110.1:n.*227T>C
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