Canonical Allele Identifier: CA371122215

Gene: POMK

Linked Data

• ClinVar Variation Id: 2135480
• ClinVar RCV Id: RCV003066318
• MyVariant Identifiers: chr8:g.42977544C>G (hg19) ; chr8:g.43122401C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122401C>G , CM000670.2:g.43122401C>G	GRCh38
NC_000008.10:g.42977544C>G , CM000670.1:g.42977544C>G	GRCh37
NC_000008.9:g.43096701C>G	NCBI36
NG_033235.1:g.33896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.577C>G MANE Select	ENSP00000331258.5:p.His193Asp
ENST00000614426.2:c.*373C>G	ENSP00000478821.2:n.*373C>G
ENST00000674646.1:c.295C>G	ENSP00000501703.1:p.His99Asp
ENST00000674676.1:c.295C>G	ENSP00000502544.1:p.His99Asp
ENST00000674782.1:c.*497C>G	ENSP00000501683.1:n.*497C>G
ENST00000674937.1:c.535C>G	ENSP00000501823.1:p.His179Asp
ENST00000675322.1:c.295C>G	ENSP00000502235.1:p.His99Asp
ENST00000675675.1:c.295C>G	ENSP00000501793.1:p.His99Asp
ENST00000676178.1:c.*362C>G	ENSP00000502007.1:n.*362C>G
ENST00000676193.1:c.577C>G	ENSP00000502774.1:p.His193Asp
ENST00000331373.9:c.577C>G	ENSP00000331258.5:p.His193Asp
ENST00000614426.1:c.577C>G	ENSP00000478821.1:p.His193Asp
NM_001277971.1:c.577C>G	NP_001264900.1:p.His193Asp
NM_032237.4:c.577C>G	NP_115613.1:p.His193Asp
XM_011544668.1:c.577C>G	XP_011542970.1:p.His193Asp
XM_011544669.1:c.577C>G	XP_011542971.1:p.His193Asp
NM_032237.5:c.577C>G MANE Select	NP_115613.1:p.His193Asp
NM_001277971.2:c.577C>G	NP_001264900.1:p.His193Asp