Canonical Allele Identifier: CA4736375

Gene: POMK

Linked Data

• ClinVar Variation Id: 1323591
• ClinVar RCV Id: RCV001785871 ; RCV001885168 ; RCV003458231
• dbSNP Id: rs528307346
• ExAC: 8:42977874 C / T
• gnomAD v2: 8-42977874-C-T
• gnomAD v3: 8-43122731-C-T
• gnomAD v4: 8-43122731-C-T
• MyVariant Identifiers: chr8:g.42977874C>T (hg19) ; chr8:g.43122731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122731C>T , CM000670.2:g.43122731C>T	GRCh38
NC_000008.10:g.42977874C>T , CM000670.1:g.42977874C>T	GRCh37
NC_000008.9:g.43097031C>T	NCBI36
NG_033235.1:g.34226C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000331373.10:c.907C>T MANE Select	ENSP00000331258.5:p.Arg303Ter
ENST00000614426.2:c.*703C>T	ENSP00000478821.2:n.*703C>T
ENST00000674646.1:c.625C>T	ENSP00000501703.1:p.Arg209Ter
ENST00000674676.1:c.625C>T	ENSP00000502544.1:p.Arg209Ter
ENST00000674782.1:c.*827C>T	ENSP00000501683.1:n.*827C>T
ENST00000674937.1:c.865C>T	ENSP00000501823.1:p.Arg289Ter
ENST00000675322.1:c.625C>T	ENSP00000502235.1:p.Arg209Ter
ENST00000675675.1:c.625C>T	ENSP00000501793.1:p.Arg209Ter
ENST00000676178.1:c.*692C>T	ENSP00000502007.1:n.*692C>T
ENST00000676193.1:c.907C>T	ENSP00000502774.1:p.Arg303Ter
ENST00000331373.9:c.907C>T	ENSP00000331258.5:p.Arg303Ter
ENST00000614426.1:c.907C>T	ENSP00000478821.1:p.Arg303Ter
NM_001277971.1:c.907C>T	NP_001264900.1:p.Arg303Ter
NM_032237.4:c.907C>T	NP_115613.1:p.Arg303Ter
XM_011544668.1:c.907C>T	XP_011542970.1:p.Arg303Ter
XM_011544669.1:c.907C>T	XP_011542971.1:p.Arg303Ter
NM_032237.5:c.907C>T MANE Select	NP_115613.1:p.Arg303Ter
NM_001277971.2:c.907C>T	NP_001264900.1:p.Arg303Ter