Canonical Allele Identifier: CA4736314

Gene: POMK

Linked Data

• ClinVar Variation Id: 570262
• ClinVar RCV Id: RCV000691084 ; RCV003489813
• dbSNP Id: rs146214675
• ExAC: 8:42977566 G / A
• gnomAD v2: 8-42977566-G-A
• gnomAD v3: 8-43122423-G-A
• gnomAD v4: 8-43122423-G-A
• MyVariant Identifiers: chr8:g.42977566G>A (hg19) ; chr8:g.43122423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122423G>A , CM000670.2:g.43122423G>A	GRCh38
NC_000008.10:g.42977566G>A , CM000670.1:g.42977566G>A	GRCh37
NC_000008.9:g.43096723G>A	NCBI36
NG_033235.1:g.33918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.599G>A MANE Select	ENSP00000331258.5:p.Arg200Gln
ENST00000614426.2:c.*395G>A	ENSP00000478821.2:n.*395G>A
ENST00000674646.1:c.317G>A	ENSP00000501703.1:p.Arg106Gln
ENST00000674676.1:c.317G>A	ENSP00000502544.1:p.Arg106Gln
ENST00000674782.1:c.*519G>A	ENSP00000501683.1:n.*519G>A
ENST00000674937.1:c.557G>A	ENSP00000501823.1:p.Arg186Gln
ENST00000675322.1:c.317G>A	ENSP00000502235.1:p.Arg106Gln
ENST00000675675.1:c.317G>A	ENSP00000501793.1:p.Arg106Gln
ENST00000676178.1:c.*384G>A	ENSP00000502007.1:n.*384G>A
ENST00000676193.1:c.599G>A	ENSP00000502774.1:p.Arg200Gln
ENST00000331373.9:c.599G>A	ENSP00000331258.5:p.Arg200Gln
ENST00000614426.1:c.599G>A	ENSP00000478821.1:p.Arg200Gln
NM_001277971.1:c.599G>A	NP_001264900.1:p.Arg200Gln
NM_032237.4:c.599G>A	NP_115613.1:p.Arg200Gln
XM_011544668.1:c.599G>A	XP_011542970.1:p.Arg200Gln
XM_011544669.1:c.599G>A	XP_011542971.1:p.Arg200Gln
NM_032237.5:c.599G>A MANE Select	NP_115613.1:p.Arg200Gln
NM_001277971.2:c.599G>A	NP_001264900.1:p.Arg200Gln