Canonical Allele Identifier: CA460787554

Gene: POMK

Linked Data

• ClinVar Variation Id: 2929827
• ClinVar RCV Id: RCV003784993
• dbSNP Id: rs1465882840
• gnomAD v2: 8-42977456-A-C
• gnomAD v3: 8-43122313-A-C
• gnomAD v4: 8-43122313-A-C
• MyVariant Identifiers: chr8:g.42977456A>C (hg19) ; chr8:g.43122313A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122313A>C , CM000670.2:g.43122313A>C	GRCh38
NC_000008.10:g.42977456A>C , CM000670.1:g.42977456A>C	GRCh37
NC_000008.9:g.43096613A>C	NCBI36
NG_033235.1:g.33808A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.489A>C MANE Select	ENSP00000331258.5:p.Thr163=
ENST00000614426.2:c.*285A>C	ENSP00000478821.2:n.*285A>C
ENST00000674646.1:c.207A>C	ENSP00000501703.1:p.Thr69=
ENST00000674676.1:c.207A>C	ENSP00000502544.1:p.Thr69=
ENST00000674782.1:c.*409A>C	ENSP00000501683.1:n.*409A>C
ENST00000674937.1:c.447A>C	ENSP00000501823.1:p.Thr149=
ENST00000675322.1:c.207A>C	ENSP00000502235.1:p.Thr69=
ENST00000675675.1:c.207A>C	ENSP00000501793.1:p.Thr69=
ENST00000676178.1:c.*274A>C	ENSP00000502007.1:n.*274A>C
ENST00000676193.1:c.489A>C	ENSP00000502774.1:p.Thr163=
ENST00000331373.9:c.489A>C	ENSP00000331258.5:p.Thr163=
ENST00000614426.1:c.489A>C	ENSP00000478821.1:p.Thr163=
NM_001277971.1:c.489A>C	NP_001264900.1:p.Thr163=
NM_032237.4:c.489A>C	NP_115613.1:p.Thr163=
XM_011544668.1:c.489A>C	XP_011542970.1:p.Thr163=
XM_011544669.1:c.489A>C	XP_011542971.1:p.Thr163=
NM_032237.5:c.489A>C MANE Select	NP_115613.1:p.Thr163=
NM_001277971.2:c.489A>C	NP_001264900.1:p.Thr163=