Canonical Allele Identifier: CA4736304
Gene: POMK HGNC NCBI

Linked Data

dbSNP Id: rs149297443
gnomAD v2: 8-42977532-A-T
gnomAD v3: 8-43122389-A-T
gnomAD v4: 8-43122389-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122389A>T , CM000670.2:g.43122389A>T GRCh38
NC_000008.10:g.42977532A>T , CM000670.1:g.42977532A>T GRCh37
NC_000008.9:g.43096689A>T NCBI36
NG_033235.1:g.33884A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.565A>T MANE Select ENSP00000331258.5:p.Ile189Phe
ENST00000614426.2:c.*361A>T ENSP00000478821.2:n.*361A>T
ENST00000674646.1:c.283A>T ENSP00000501703.1:p.Ile95Phe
ENST00000674676.1:c.283A>T ENSP00000502544.1:p.Ile95Phe
ENST00000674782.1:c.*485A>T ENSP00000501683.1:n.*485A>T
ENST00000674937.1:c.523A>T ENSP00000501823.1:p.Ile175Phe
ENST00000675322.1:c.283A>T ENSP00000502235.1:p.Ile95Phe
ENST00000675675.1:c.283A>T ENSP00000501793.1:p.Ile95Phe
ENST00000676178.1:c.*350A>T ENSP00000502007.1:n.*350A>T
ENST00000676193.1:c.565A>T ENSP00000502774.1:p.Ile189Phe
ENST00000331373.9:c.565A>T ENSP00000331258.5:p.Ile189Phe
ENST00000614426.1:c.565A>T ENSP00000478821.1:p.Ile189Phe
NM_001277971.1:c.565A>T NP_001264900.1:p.Ile189Phe
NM_032237.4:c.565A>T NP_115613.1:p.Ile189Phe
XM_011544668.1:c.565A>T XP_011542970.1:p.Ile189Phe
XM_011544669.1:c.565A>T XP_011542971.1:p.Ile189Phe
NM_032237.5:c.565A>T MANE Select NP_115613.1:p.Ile189Phe
NM_001277971.2:c.565A>T NP_001264900.1:p.Ile189Phe