Canonical Allele Identifier: CA371122385
Gene: POMK HGNC NCBI

Linked Data

ClinVar Variation Id: 971345
ClinVar RCV Id: RCV001247109
dbSNP Id: rs1811941055

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122485T>C , CM000670.2:g.43122485T>C GRCh38
NC_000008.10:g.42977628T>C , CM000670.1:g.42977628T>C GRCh37
NC_000008.9:g.43096785T>C NCBI36
NG_033235.1:g.33980T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.661T>C MANE Select ENSP00000331258.5:p.Phe221Leu
ENST00000614426.2:c.*457T>C ENSP00000478821.2:n.*457T>C
ENST00000674646.1:c.379T>C ENSP00000501703.1:p.Phe127Leu
ENST00000674676.1:c.379T>C ENSP00000502544.1:p.Phe127Leu
ENST00000674782.1:c.*581T>C ENSP00000501683.1:n.*581T>C
ENST00000674937.1:c.619T>C ENSP00000501823.1:p.Phe207Leu
ENST00000675322.1:c.379T>C ENSP00000502235.1:p.Phe127Leu
ENST00000675675.1:c.379T>C ENSP00000501793.1:p.Phe127Leu
ENST00000676178.1:c.*446T>C ENSP00000502007.1:n.*446T>C
ENST00000676193.1:c.661T>C ENSP00000502774.1:p.Phe221Leu
ENST00000331373.9:c.661T>C ENSP00000331258.5:p.Phe221Leu
ENST00000614426.1:c.661T>C ENSP00000478821.1:p.Phe221Leu
NM_001277971.1:c.661T>C NP_001264900.1:p.Phe221Leu
NM_032237.4:c.661T>C NP_115613.1:p.Phe221Leu
XM_011544668.1:c.661T>C XP_011542970.1:p.Phe221Leu
XM_011544669.1:c.661T>C XP_011542971.1:p.Phe221Leu
NM_032237.5:c.661T>C MANE Select NP_115613.1:p.Phe221Leu
NM_001277971.2:c.661T>C NP_001264900.1:p.Phe221Leu