Canonical Allele Identifier: CA371122554

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977705C>G (hg19) ; chr8:g.43122562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122562C>G , CM000670.2:g.43122562C>G	GRCh38
NC_000008.10:g.42977705C>G , CM000670.1:g.42977705C>G	GRCh37
NC_000008.9:g.43096862C>G	NCBI36
NG_033235.1:g.34057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.738C>G MANE Select	ENSP00000331258.5:p.His246Gln
ENST00000614426.2:c.*534C>G	ENSP00000478821.2:n.*534C>G
ENST00000674646.1:c.456C>G	ENSP00000501703.1:p.His152Gln
ENST00000674676.1:c.456C>G	ENSP00000502544.1:p.His152Gln
ENST00000674782.1:c.*658C>G	ENSP00000501683.1:n.*658C>G
ENST00000674937.1:c.696C>G	ENSP00000501823.1:p.His232Gln
ENST00000675322.1:c.456C>G	ENSP00000502235.1:p.His152Gln
ENST00000675675.1:c.456C>G	ENSP00000501793.1:p.His152Gln
ENST00000676178.1:c.*523C>G	ENSP00000502007.1:n.*523C>G
ENST00000676193.1:c.738C>G	ENSP00000502774.1:p.His246Gln
ENST00000331373.9:c.738C>G	ENSP00000331258.5:p.His246Gln
ENST00000614426.1:c.738C>G	ENSP00000478821.1:p.His246Gln
NM_001277971.1:c.738C>G	NP_001264900.1:p.His246Gln
NM_032237.4:c.738C>G	NP_115613.1:p.His246Gln
XM_011544668.1:c.738C>G	XP_011542970.1:p.His246Gln
XM_011544669.1:c.738C>G	XP_011542971.1:p.His246Gln
NM_032237.5:c.738C>G MANE Select	NP_115613.1:p.His246Gln
NM_001277971.2:c.738C>G	NP_001264900.1:p.His246Gln