Canonical Allele Identifier: CA173960
Gene: POMK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 160349
dbSNP Id: rs199756983

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122729T>A , CM000670.2:g.43122729T>A GRCh38
NC_000008.10:g.42977872T>A , CM000670.1:g.42977872T>A GRCh37
NC_000008.9:g.43097029T>A NCBI36
NG_033235.1:g.34224T>A

Transcript Alleles

HGVS Amino-acid change
NM_001277971.1:c.905T>A VV NP_001264900.1:p.Val302Asp
NM_032237.4:c.905T>A VV NP_115613.1:p.Val302Asp
XM_011544668.1:c.905T>A XP_011542970.1:p.Val302Asp
XM_011544669.1:c.905T>A XP_011542971.1:p.Val302Asp
ENST00000331373.9:c.905T>A ENSP00000331258.5:p.Val302Asp
ENST00000614426.1:c.905T>A ENSP00000478821.1:p.Val302Asp