Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA143783

Gene: POMK HGNC NCBI

Linked Data

ClinVar Variation Id: 50611

ClinVar RCV Id: RCV001068653

dbSNP Id: rs397509386

gnomAD v2: 8-42977740-A-G

gnomAD v3: 8-43122597-A-G

gnomAD v4: 8-43122597-A-G

MyVariant Identifiers: chr8:g.42977740A>G (hg19) chr8:g.43122597A>G (hg38)

PubMed: PMID:23519211

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122597A>G , CM000670.2:g.43122597A>G	GRCh38
NC_000008.10:g.42977740A>G , CM000670.1:g.42977740A>G	GRCh37
NC_000008.9:g.43096897A>G	NCBI36
NG_033235.1:g.34092A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000331373.10:c.773A>G MANE Select	ENSP00000331258.5:p.Gln258Arg
ENST00000614426.2:c.*569A>G	ENSP00000478821.2:n.*569A>G
ENST00000674646.1:c.491A>G	ENSP00000501703.1:p.Gln164Arg
ENST00000674676.1:c.491A>G	ENSP00000502544.1:p.Gln164Arg
ENST00000674782.1:c.*693A>G	ENSP00000501683.1:n.*693A>G
ENST00000674937.1:c.731A>G	ENSP00000501823.1:p.Gln244Arg
ENST00000675322.1:c.491A>G	ENSP00000502235.1:p.Gln164Arg
ENST00000675675.1:c.491A>G	ENSP00000501793.1:p.Gln164Arg
ENST00000676178.1:c.*558A>G	ENSP00000502007.1:n.*558A>G
ENST00000676193.1:c.773A>G	ENSP00000502774.1:p.Gln258Arg
ENST00000331373.9:c.773A>G	ENSP00000331258.5:p.Gln258Arg
ENST00000614426.1:c.773A>G	ENSP00000478821.1:p.Gln258Arg
NM_001277971.1:c.773A>G	NP_001264900.1:p.Gln258Arg
NM_032237.4:c.773A>G	NP_115613.1:p.Gln258Arg
XM_011544668.1:c.773A>G	XP_011542970.1:p.Gln258Arg
XM_011544669.1:c.773A>G	XP_011542971.1:p.Gln258Arg
NM_032237.5:c.773A>G MANE Select	NP_115613.1:p.Gln258Arg
NM_001277971.2:c.773A>G	NP_001264900.1:p.Gln258Arg