Canonical Allele Identifier: CA4736178
Community Standard Title: NM_032237.5(POMK):c.44G>A (p.Arg15Gln)
Gene: POMK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43103592G>A , CM000670.2:g.43103592G>A GRCh38
NC_000008.10:g.42958735G>A , CM000670.1:g.42958735G>A GRCh37
NC_000008.9:g.43077892G>A NCBI36
NG_033235.1:g.15087G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032237.5:c.44G>A MANE Select NP_115613.1:p.Arg15Gln
ENST00000331373.10:c.44G>A MANE Select ENSP00000331258.5:p.Arg15Gln
NM_001277971.1:c.44G>A NP_001264900.1:p.Arg15Gln
NM_001277971.2:c.44G>A NP_001264900.1:p.Arg15Gln
NM_032237.4:c.44G>A NP_115613.1:p.Arg15Gln
ENST00000331373.9:c.44G>A ENSP00000331258.5:p.Arg15Gln
ENST00000518991.5:c.44G>A ENSP00000429090.1:p.Arg15Gln
ENST00000518991.6:c.44G>A ENSP00000429090.2:p.Arg15Gln
ENST00000614426.1:c.44G>A ENSP00000478821.1:p.Arg15Gln
ENST00000614426.2:c.44G>A ENSP00000478821.2:p.Arg15Gln
ENST00000674727.1:n.302G>A
ENST00000674782.1:c.44G>A ENSP00000501683.1:p.Arg15Gln
ENST00000674820.1:c.44G>A ENSP00000502636.1:p.Arg15Gln
ENST00000674937.1:c.44G>A ENSP00000501823.1:p.Arg15Gln
ENST00000675129.1:c.44G>A ENSP00000501906.1:p.Arg15Gln
ENST00000676178.1:c.44G>A ENSP00000502007.1:p.Arg15Gln
ENST00000676193.1:c.44G>A ENSP00000502774.1:p.Arg15Gln
XM_011544668.1:c.44G>A XP_011542970.1:p.Arg15Gln
XM_011544669.1:c.44G>A XP_011542971.1:p.Arg15Gln