Canonical Allele Identifier: CA371122757

Gene: POMK

Linked Data

• ClinVar Variation Id: 957806
• ClinVar RCV Id: RCV001230857
• dbSNP Id: rs1811945936
• gnomAD v3: 8-43122651-A-G
• gnomAD v4: 8-43122651-A-G
• MyVariant Identifiers: chr8:g.42977794A>G (hg19) ; chr8:g.43122651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122651A>G , CM000670.2:g.43122651A>G	GRCh38
NC_000008.10:g.42977794A>G , CM000670.1:g.42977794A>G	GRCh37
NC_000008.9:g.43096951A>G	NCBI36
NG_033235.1:g.34146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.827A>G MANE Select	ENSP00000331258.5:p.Tyr276Cys
ENST00000614426.2:c.*623A>G	ENSP00000478821.2:n.*623A>G
ENST00000674646.1:c.545A>G	ENSP00000501703.1:p.Tyr182Cys
ENST00000674676.1:c.545A>G	ENSP00000502544.1:p.Tyr182Cys
ENST00000674782.1:c.*747A>G	ENSP00000501683.1:n.*747A>G
ENST00000674937.1:c.785A>G	ENSP00000501823.1:p.Tyr262Cys
ENST00000675322.1:c.545A>G	ENSP00000502235.1:p.Tyr182Cys
ENST00000675675.1:c.545A>G	ENSP00000501793.1:p.Tyr182Cys
ENST00000676178.1:c.*612A>G	ENSP00000502007.1:n.*612A>G
ENST00000676193.1:c.827A>G	ENSP00000502774.1:p.Tyr276Cys
ENST00000331373.9:c.827A>G	ENSP00000331258.5:p.Tyr276Cys
ENST00000614426.1:c.827A>G	ENSP00000478821.1:p.Tyr276Cys
NM_001277971.1:c.827A>G	NP_001264900.1:p.Tyr276Cys
NM_032237.4:c.827A>G	NP_115613.1:p.Tyr276Cys
XM_011544668.1:c.827A>G	XP_011542970.1:p.Tyr276Cys
XM_011544669.1:c.827A>G	XP_011542971.1:p.Tyr276Cys
NM_032237.5:c.827A>G MANE Select	NP_115613.1:p.Tyr276Cys
NM_001277971.2:c.827A>G	NP_001264900.1:p.Tyr276Cys