Canonical Allele Identifier: CA371122143

Gene: POMK

Linked Data

• ClinVar Variation Id: 1009080
• ClinVar RCV Id: RCV001306520
• dbSNP Id: rs1811935914
• gnomAD v4: 8-43122369-C-T
• MyVariant Identifiers: chr8:g.42977512C>T (hg19) ; chr8:g.43122369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122369C>T , CM000670.2:g.43122369C>T	GRCh38
NC_000008.10:g.42977512C>T , CM000670.1:g.42977512C>T	GRCh37
NC_000008.9:g.43096669C>T	NCBI36
NG_033235.1:g.33864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.545C>T MANE Select	ENSP00000331258.5:p.Ala182Val
ENST00000614426.2:c.*341C>T	ENSP00000478821.2:n.*341C>T
ENST00000674646.1:c.263C>T	ENSP00000501703.1:p.Ala88Val
ENST00000674676.1:c.263C>T	ENSP00000502544.1:p.Ala88Val
ENST00000674782.1:c.*465C>T	ENSP00000501683.1:n.*465C>T
ENST00000674937.1:c.503C>T	ENSP00000501823.1:p.Ala168Val
ENST00000675322.1:c.263C>T	ENSP00000502235.1:p.Ala88Val
ENST00000675675.1:c.263C>T	ENSP00000501793.1:p.Ala88Val
ENST00000676178.1:c.*330C>T	ENSP00000502007.1:n.*330C>T
ENST00000676193.1:c.545C>T	ENSP00000502774.1:p.Ala182Val
ENST00000331373.9:c.545C>T	ENSP00000331258.5:p.Ala182Val
ENST00000614426.1:c.545C>T	ENSP00000478821.1:p.Ala182Val
NM_001277971.1:c.545C>T	NP_001264900.1:p.Ala182Val
NM_032237.4:c.545C>T	NP_115613.1:p.Ala182Val
XM_011544668.1:c.545C>T	XP_011542970.1:p.Ala182Val
XM_011544669.1:c.545C>T	XP_011542971.1:p.Ala182Val
NM_032237.5:c.545C>T MANE Select	NP_115613.1:p.Ala182Val
NM_001277971.2:c.545C>T	NP_001264900.1:p.Ala182Val