Canonical Allele Identifier: CA371121980
Gene: POMK HGNC NCBI

Linked Data

ClinVar Variation Id: 2187902
ClinVar RCV Id: RCV002623652
dbSNP Id: rs1230870772
gnomAD v2: 8-42977440-G-A
gnomAD v4: 8-43122297-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122297G>A , CM000670.2:g.43122297G>A GRCh38
NC_000008.10:g.42977440G>A , CM000670.1:g.42977440G>A GRCh37
NC_000008.9:g.43096597G>A NCBI36
NG_033235.1:g.33792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.473G>A MANE Select ENSP00000331258.5:p.Ser158Asn
ENST00000614426.2:c.*269G>A ENSP00000478821.2:n.*269G>A
ENST00000674646.1:c.191G>A ENSP00000501703.1:p.Ser64Asn
ENST00000674676.1:c.191G>A ENSP00000502544.1:p.Ser64Asn
ENST00000674782.1:c.*393G>A ENSP00000501683.1:n.*393G>A
ENST00000674937.1:c.431G>A ENSP00000501823.1:p.Ser144Asn
ENST00000675322.1:c.191G>A ENSP00000502235.1:p.Ser64Asn
ENST00000675675.1:c.191G>A ENSP00000501793.1:p.Ser64Asn
ENST00000676178.1:c.*258G>A ENSP00000502007.1:n.*258G>A
ENST00000676193.1:c.473G>A ENSP00000502774.1:p.Ser158Asn
ENST00000331373.9:c.473G>A ENSP00000331258.5:p.Ser158Asn
ENST00000614426.1:c.473G>A ENSP00000478821.1:p.Ser158Asn
NM_001277971.1:c.473G>A NP_001264900.1:p.Ser158Asn
NM_032237.4:c.473G>A NP_115613.1:p.Ser158Asn
XM_011544668.1:c.473G>A XP_011542970.1:p.Ser158Asn
XM_011544669.1:c.473G>A XP_011542971.1:p.Ser158Asn
NM_032237.5:c.473G>A MANE Select NP_115613.1:p.Ser158Asn
NM_001277971.2:c.473G>A NP_001264900.1:p.Ser158Asn