Canonical Allele Identifier: CA1779747746
Gene: POMK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122620G= , CM000670.2:g.43122620G= GRCh38
NC_000008.10:g.42977763G= , CM000670.1:g.42977763G= GRCh37
NC_000008.9:g.43096920G= NCBI36
NG_033235.1:g.34115G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.796G= MANE Select ENSP00000331258.5:p.Val266=
ENST00000614426.2:c.*592G= ENSP00000478821.2:n.*592G=
ENST00000674646.1:c.514G= ENSP00000501703.1:p.Val172=
ENST00000674676.1:c.514G= ENSP00000502544.1:p.Val172=
ENST00000674782.1:c.*716G= ENSP00000501683.1:n.*716G=
ENST00000674937.1:c.754G= ENSP00000501823.1:p.Val252=
ENST00000675322.1:c.514G= ENSP00000502235.1:p.Val172=
ENST00000675675.1:c.514G= ENSP00000501793.1:p.Val172=
ENST00000676178.1:c.*581G= ENSP00000502007.1:n.*581G=
ENST00000676193.1:c.796G= ENSP00000502774.1:p.Val266=
ENST00000331373.9:c.796G= ENSP00000331258.5:p.Val266=
ENST00000614426.1:c.796G= ENSP00000478821.1:p.Val266=
NM_001277971.1:c.796G= NP_001264900.1:p.Val266=
NM_032237.4:c.796G= NP_115613.1:p.Val266=
XM_011544668.1:c.796G= XP_011542970.1:p.Val266=
XM_011544669.1:c.796G= XP_011542971.1:p.Val266=
NM_032237.5:c.796G= MANE Select NP_115613.1:p.Val266=
NM_001277971.2:c.796G= NP_001264900.1:p.Val266=