Canonical Allele Identifier: CA4736298
Gene: POMK HGNC NCBI

Linked Data

dbSNP Id: rs756972141
gnomAD v2: 8-42977494-A-C
gnomAD v4: 8-43122351-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122351A>C , CM000670.2:g.43122351A>C GRCh38
NC_000008.10:g.42977494A>C , CM000670.1:g.42977494A>C GRCh37
NC_000008.9:g.43096651A>C NCBI36
NG_033235.1:g.33846A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.527A>C MANE Select ENSP00000331258.5:p.Gln176Pro
ENST00000614426.2:c.*323A>C ENSP00000478821.2:n.*323A>C
ENST00000674646.1:c.245A>C ENSP00000501703.1:p.Gln82Pro
ENST00000674676.1:c.245A>C ENSP00000502544.1:p.Gln82Pro
ENST00000674782.1:c.*447A>C ENSP00000501683.1:n.*447A>C
ENST00000674937.1:c.485A>C ENSP00000501823.1:p.Gln162Pro
ENST00000675322.1:c.245A>C ENSP00000502235.1:p.Gln82Pro
ENST00000675675.1:c.245A>C ENSP00000501793.1:p.Gln82Pro
ENST00000676178.1:c.*312A>C ENSP00000502007.1:n.*312A>C
ENST00000676193.1:c.527A>C ENSP00000502774.1:p.Gln176Pro
ENST00000331373.9:c.527A>C ENSP00000331258.5:p.Gln176Pro
ENST00000614426.1:c.527A>C ENSP00000478821.1:p.Gln176Pro
NM_001277971.1:c.527A>C NP_001264900.1:p.Gln176Pro
NM_032237.4:c.527A>C NP_115613.1:p.Gln176Pro
XM_011544668.1:c.527A>C XP_011542970.1:p.Gln176Pro
XM_011544669.1:c.527A>C XP_011542971.1:p.Gln176Pro
NM_032237.5:c.527A>C MANE Select NP_115613.1:p.Gln176Pro
NM_001277971.2:c.527A>C NP_001264900.1:p.Gln176Pro