Canonical Allele Identifier: CA173960

Gene: POMK

Linked Data

• ClinVar Variation Id: 160349
• ClinVar RCV Id: RCV000148016 ; RCV000552911 ; RCV001781486 ; RCV001818339
• dbSNP Id: rs199756983
• ExAC: 8:42977872 T / A
• gnomAD v2: 8-42977872-T-A
• gnomAD v3: 8-43122729-T-A
• gnomAD v4: 8-43122729-T-A
• MyVariant Identifiers: chr8:g.42977872T>A (hg19) ; chr8:g.43122729T>A (hg38)
• PubMed: PMID:24925318

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122729T>A , CM000670.2:g.43122729T>A	GRCh38
NC_000008.10:g.42977872T>A , CM000670.1:g.42977872T>A	GRCh37
NC_000008.9:g.43097029T>A	NCBI36
NG_033235.1:g.34224T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.905T>A MANE Select	ENSP00000331258.5:p.Val302Asp
ENST00000614426.2:c.*701T>A	ENSP00000478821.2:n.*701T>A
ENST00000674646.1:c.623T>A	ENSP00000501703.1:p.Val208Asp
ENST00000674676.1:c.623T>A	ENSP00000502544.1:p.Val208Asp
ENST00000674782.1:c.*825T>A	ENSP00000501683.1:n.*825T>A
ENST00000674937.1:c.863T>A	ENSP00000501823.1:p.Val288Asp
ENST00000675322.1:c.623T>A	ENSP00000502235.1:p.Val208Asp
ENST00000675675.1:c.623T>A	ENSP00000501793.1:p.Val208Asp
ENST00000676178.1:c.*690T>A	ENSP00000502007.1:n.*690T>A
ENST00000676193.1:c.905T>A	ENSP00000502774.1:p.Val302Asp
ENST00000331373.9:c.905T>A	ENSP00000331258.5:p.Val302Asp
ENST00000614426.1:c.905T>A	ENSP00000478821.1:p.Val302Asp
NM_001277971.1:c.905T>A	NP_001264900.1:p.Val302Asp
NM_032237.4:c.905T>A	NP_115613.1:p.Val302Asp
XM_011544668.1:c.905T>A	XP_011542970.1:p.Val302Asp
XM_011544669.1:c.905T>A	XP_011542971.1:p.Val302Asp
NM_032237.5:c.905T>A MANE Select	NP_115613.1:p.Val302Asp
NM_001277971.2:c.905T>A	NP_001264900.1:p.Val302Asp