Canonical Allele Identifier: CA581929137

Gene: POMK

Linked Data

• dbSNP Id: rs1481968018
• gnomAD v2: 8-42978053-G-T
• gnomAD v4: 8-43122910-G-T
• MyVariant Identifiers: chr8:g.42978053G>T (hg19) ; chr8:g.43122910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122910G>T , CM000670.2:g.43122910G>T	GRCh38
NC_000008.10:g.42978053G>T , CM000670.1:g.42978053G>T	GRCh37
NC_000008.9:g.43097210G>T	NCBI36
NG_033235.1:g.34405G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.*33G>T MANE Select	ENSP00000331258.5:n.*33G>T
ENST00000614426.2:c.*882G>T	ENSP00000478821.2:n.*882G>T
ENST00000674646.1:c.804G>T	ENSP00000501703.1:n.804G>T
ENST00000674676.1:c.792+12G>T	ENSP00000502544.1:n.792+12G>T
ENST00000674782.1:c.*1006G>T	ENSP00000501683.1:n.*1006G>T
ENST00000674937.1:c.*33G>T	ENSP00000501823.1:n.*33G>T
ENST00000675322.1:c.804G>T	ENSP00000502235.1:n.804G>T
ENST00000675675.1:c.792+12G>T	ENSP00000501793.1:n.792+12G>T
ENST00000676178.1:c.*871G>T	ENSP00000502007.1:n.*871G>T
ENST00000676193.1:c.*33G>T	ENSP00000502774.1:n.*33G>T
ENST00000331373.9:c.*33G>T	ENSP00000331258.5:n.*33G>T
ENST00000614426.1:c.*33G>T	ENSP00000478821.1:n.*33G>T
NM_001277971.1:c.*33G>T	NP_001264900.1:n.*33G>T
NM_032237.4:c.*33G>T	NP_115613.1:n.*33G>T
XM_011544668.1:c.*33G>T	XP_011542970.1:n.*33G>T
XM_011544669.1:c.*33G>T	XP_011542971.1:n.*33G>T
NM_032237.5:c.*33G>T MANE Select	NP_115613.1:n.*33G>T
NM_001277971.2:c.*33G>T	NP_001264900.1:n.*33G>T