Canonical Allele Identifier: CA4736393
Gene: POMK HGNC NCBI

Linked Data

dbSNP Id: rs749588884

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122838dup , CM000670.2:g.43122838dup GRCh38
NC_000008.10:g.42977981dup , CM000670.1:g.42977981dup GRCh37
NC_000008.9:g.43097138dup NCBI36
NG_033235.1:g.34333dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.1014dup MANE Select ENSP00000331258.5:p.Arg339Ter
ENST00000614426.2:c.*810dup ENSP00000478821.2:n.*810dup
ENST00000674646.1:c.732dup ENSP00000501703.1:p.Arg245Ter
ENST00000674676.1:c.732dup ENSP00000502544.1:p.Arg245Ter
ENST00000674782.1:c.*934dup ENSP00000501683.1:n.*934dup
ENST00000674937.1:c.972dup ENSP00000501823.1:p.Arg325Ter
ENST00000675322.1:c.732dup ENSP00000502235.1:p.Arg245Ter
ENST00000675675.1:c.732dup ENSP00000501793.1:p.Arg245Ter
ENST00000676178.1:c.*799dup ENSP00000502007.1:n.*799dup
ENST00000676193.1:c.1014dup ENSP00000502774.1:p.Arg339Ter
ENST00000331373.9:c.1014dup ENSP00000331258.5:p.Arg339Ter
ENST00000614426.1:c.1014dup ENSP00000478821.1:p.Arg339Ter
NM_001277971.1:c.1014dup NP_001264900.1:p.Arg339Ter
NM_032237.4:c.1014dup NP_115613.1:p.Arg339Ter
XM_011544668.1:c.1014dup XP_011542970.1:p.Arg339Ter
XM_011544669.1:c.1014dup XP_011542971.1:p.Arg339Ter
NM_032237.5:c.1014dup MANE Select NP_115613.1:p.Arg339Ter
NM_001277971.2:c.1014dup NP_001264900.1:p.Arg339Ter