Canonical Allele Identifier: CA4736376

Gene: POMK

Linked Data

• ClinVar Variation Id: 971161
• ClinVar RCV Id: RCV001246879
• dbSNP Id: rs370946940
• ExAC: 8:42977875 G / A
• gnomAD v2: 8-42977875-G-A
• gnomAD v3: 8-43122732-G-A
• gnomAD v4: 8-43122732-G-A
• MyVariant Identifiers: chr8:g.42977875G>A (hg19) ; chr8:g.43122732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122732G>A , CM000670.2:g.43122732G>A	GRCh38
NC_000008.10:g.42977875G>A , CM000670.1:g.42977875G>A	GRCh37
NC_000008.9:g.43097032G>A	NCBI36
NG_033235.1:g.34227G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000331373.10:c.908G>A MANE Select	ENSP00000331258.5:p.Arg303Gln
ENST00000614426.2:c.*704G>A	ENSP00000478821.2:n.*704G>A
ENST00000674646.1:c.626G>A	ENSP00000501703.1:p.Arg209Gln
ENST00000674676.1:c.626G>A	ENSP00000502544.1:p.Arg209Gln
ENST00000674782.1:c.*828G>A	ENSP00000501683.1:n.*828G>A
ENST00000674937.1:c.866G>A	ENSP00000501823.1:p.Arg289Gln
ENST00000675322.1:c.626G>A	ENSP00000502235.1:p.Arg209Gln
ENST00000675675.1:c.626G>A	ENSP00000501793.1:p.Arg209Gln
ENST00000676178.1:c.*693G>A	ENSP00000502007.1:n.*693G>A
ENST00000676193.1:c.908G>A	ENSP00000502774.1:p.Arg303Gln
ENST00000331373.9:c.908G>A	ENSP00000331258.5:p.Arg303Gln
ENST00000614426.1:c.908G>A	ENSP00000478821.1:p.Arg303Gln
NM_001277971.1:c.908G>A	NP_001264900.1:p.Arg303Gln
NM_032237.4:c.908G>A	NP_115613.1:p.Arg303Gln
XM_011544668.1:c.908G>A	XP_011542970.1:p.Arg303Gln
XM_011544669.1:c.908G>A	XP_011542971.1:p.Arg303Gln
NM_032237.5:c.908G>A MANE Select	NP_115613.1:p.Arg303Gln
NM_001277971.2:c.908G>A	NP_001264900.1:p.Arg303Gln