Canonical Allele Identifier: CA1113252869

Gene: POMK

Linked Data

• dbSNP Id: rs1811953788
• gnomAD v3: 8-43122903-G-C
• gnomAD v4: 8-43122903-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122903G>C , CM000670.2:g.43122903G>C	GRCh38
NC_000008.10:g.42978046G>C , CM000670.1:g.42978046G>C	GRCh37
NC_000008.9:g.43097203G>C	NCBI36
NG_033235.1:g.34398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.*26G>C MANE Select	ENSP00000331258.5:n.*26G>C
ENST00000614426.2:c.*875G>C	ENSP00000478821.2:n.*875G>C
ENST00000674646.1:c.797G>C	ENSP00000501703.1:n.797G>C
ENST00000674676.1:c.792+5G>C	ENSP00000502544.1:n.792+5G>C
ENST00000674782.1:c.*999G>C	ENSP00000501683.1:n.*999G>C
ENST00000674937.1:c.*26G>C	ENSP00000501823.1:n.*26G>C
ENST00000675322.1:c.797G>C	ENSP00000502235.1:n.797G>C
ENST00000675675.1:c.792+5G>C	ENSP00000501793.1:n.792+5G>C
ENST00000676178.1:c.*864G>C	ENSP00000502007.1:n.*864G>C
ENST00000676193.1:c.*26G>C	ENSP00000502774.1:n.*26G>C
ENST00000331373.9:c.*26G>C	ENSP00000331258.5:n.*26G>C
ENST00000614426.1:c.*26G>C	ENSP00000478821.1:n.*26G>C
NM_001277971.1:c.*26G>C	NP_001264900.1:n.*26G>C
NM_032237.4:c.*26G>C	NP_115613.1:n.*26G>C
XM_011544668.1:c.*26G>C	XP_011542970.1:n.*26G>C
XM_011544669.1:c.*26G>C	XP_011542971.1:n.*26G>C
NM_032237.5:c.*26G>C MANE Select	NP_115613.1:n.*26G>C
NM_001277971.2:c.*26G>C	NP_001264900.1:n.*26G>C