Canonical Allele Identifier: CA371123009

Gene: POMK

Linked Data

• ClinVar Variation Id: 1981673
• ClinVar RCV Id: RCV002751601 ; RCV003138348
• dbSNP Id: rs1379242958
• gnomAD v3: 8-43122762-G-A
• gnomAD v4: 8-43122762-G-A
• MyVariant Identifiers: chr8:g.42977905G>A (hg19) ; chr8:g.43122762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122762G>A , CM000670.2:g.43122762G>A	GRCh38
NC_000008.10:g.42977905G>A , CM000670.1:g.42977905G>A	GRCh37
NC_000008.9:g.43097062G>A	NCBI36
NG_033235.1:g.34257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.938G>A MANE Select	ENSP00000331258.5:p.Cys313Tyr
ENST00000614426.2:c.*734G>A	ENSP00000478821.2:n.*734G>A
ENST00000674646.1:c.656G>A	ENSP00000501703.1:p.Cys219Tyr
ENST00000674676.1:c.656G>A	ENSP00000502544.1:p.Cys219Tyr
ENST00000674782.1:c.*858G>A	ENSP00000501683.1:n.*858G>A
ENST00000674937.1:c.896G>A	ENSP00000501823.1:p.Cys299Tyr
ENST00000675322.1:c.656G>A	ENSP00000502235.1:p.Cys219Tyr
ENST00000675675.1:c.656G>A	ENSP00000501793.1:p.Cys219Tyr
ENST00000676178.1:c.*723G>A	ENSP00000502007.1:n.*723G>A
ENST00000676193.1:c.938G>A	ENSP00000502774.1:p.Cys313Tyr
ENST00000331373.9:c.938G>A	ENSP00000331258.5:p.Cys313Tyr
ENST00000614426.1:c.938G>A	ENSP00000478821.1:p.Cys313Tyr
NM_001277971.1:c.938G>A	NP_001264900.1:p.Cys313Tyr
NM_032237.4:c.938G>A	NP_115613.1:p.Cys313Tyr
XM_011544668.1:c.938G>A	XP_011542970.1:p.Cys313Tyr
XM_011544669.1:c.938G>A	XP_011542971.1:p.Cys313Tyr
NM_032237.5:c.938G>A MANE Select	NP_115613.1:p.Cys313Tyr
NM_001277971.2:c.938G>A	NP_001264900.1:p.Cys313Tyr