Canonical Allele Identifier: CA2237553683
Gene: MPHOSPH6 HGNC NCBI

Linked Data

dbSNP Id: rs1471714778
gnomAD v4: 16-82148511-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82148511G>A , CM000678.2:g.82148511G>A GRCh38
NC_000016.9:g.82182116G>A , CM000678.1:g.82182116G>A GRCh37
NC_000016.8:g.80739617G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000258169.9:c.*220C>T MANE Select ENSP00000258169.4:n.*220C>T
ENST00000258169.8:c.*220C>T ENSP00000258169.4:n.*220C>T
ENST00000563100.5:c.*72+148C>T ENSP00000454996.1:n.*72+148C>T
NM_005792.2:c.*220C>T MANE Select NP_005783.2:n.*220C>T
XM_011522808.1:c.*220C>T XP_011521110.1:n.*220C>T
XM_011522808.3:c.*220C>T XP_011521110.1:n.*220C>T
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