Canonical Allele Identifier: CA4736303

Gene: POMK

Linked Data

• ClinVar Variation Id: 436700
• ClinVar RCV Id: RCV000500315 ; RCV000543981 ; RCV001335201 ; RCV001696977 ; RCV003159631 ; RCV003979901
• dbSNP Id: rs149297443
• ExAC: 8:42977532 A / G
• gnomAD v2: 8-42977532-A-G
• gnomAD v3: 8-43122389-A-G
• gnomAD v4: 8-43122389-A-G
• MyVariant Identifiers: chr8:g.42977532A>G (hg19) ; chr8:g.43122389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122389A>G , CM000670.2:g.43122389A>G	GRCh38
NC_000008.10:g.42977532A>G , CM000670.1:g.42977532A>G	GRCh37
NC_000008.9:g.43096689A>G	NCBI36
NG_033235.1:g.33884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.565A>G MANE Select	ENSP00000331258.5:p.Ile189Val
ENST00000614426.2:c.*361A>G	ENSP00000478821.2:n.*361A>G
ENST00000674646.1:c.283A>G	ENSP00000501703.1:p.Ile95Val
ENST00000674676.1:c.283A>G	ENSP00000502544.1:p.Ile95Val
ENST00000674782.1:c.*485A>G	ENSP00000501683.1:n.*485A>G
ENST00000674937.1:c.523A>G	ENSP00000501823.1:p.Ile175Val
ENST00000675322.1:c.283A>G	ENSP00000502235.1:p.Ile95Val
ENST00000675675.1:c.283A>G	ENSP00000501793.1:p.Ile95Val
ENST00000676178.1:c.*350A>G	ENSP00000502007.1:n.*350A>G
ENST00000676193.1:c.565A>G	ENSP00000502774.1:p.Ile189Val
ENST00000331373.9:c.565A>G	ENSP00000331258.5:p.Ile189Val
ENST00000614426.1:c.565A>G	ENSP00000478821.1:p.Ile189Val
NM_001277971.1:c.565A>G	NP_001264900.1:p.Ile189Val
NM_032237.4:c.565A>G	NP_115613.1:p.Ile189Val
XM_011544668.1:c.565A>G	XP_011542970.1:p.Ile189Val
XM_011544669.1:c.565A>G	XP_011542971.1:p.Ile189Val
NM_032237.5:c.565A>G MANE Select	NP_115613.1:p.Ile189Val
NM_001277971.2:c.565A>G	NP_001264900.1:p.Ile189Val