Canonical Allele Identifier: CA2687148736

Gene: POMK

Linked Data

• gnomAD v4: 8-43122898-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122898G>C , CM000670.2:g.43122898G>C	GRCh38
NC_000008.10:g.42978041G>C , CM000670.1:g.42978041G>C	GRCh37
NC_000008.9:g.43097198G>C	NCBI36
NG_033235.1:g.34393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.*21G>C MANE Select	ENSP00000331258.5:n.*21G>C
ENST00000614426.2:c.*870G>C	ENSP00000478821.2:n.*870G>C
ENST00000674646.1:c.792G>C	ENSP00000501703.1:n.792G>C
ENST00000674676.1:c.792G>C	ENSP00000502544.1:n.792G>C
ENST00000674782.1:c.*994G>C	ENSP00000501683.1:n.*994G>C
ENST00000674937.1:c.*21G>C	ENSP00000501823.1:n.*21G>C
ENST00000675322.1:c.792G>C	ENSP00000502235.1:n.792G>C
ENST00000675675.1:c.792G>C	ENSP00000501793.1:n.792G>C
ENST00000676178.1:c.*859G>C	ENSP00000502007.1:n.*859G>C
ENST00000676193.1:c.*21G>C	ENSP00000502774.1:n.*21G>C
ENST00000331373.9:c.*21G>C	ENSP00000331258.5:n.*21G>C
ENST00000614426.1:c.*21G>C	ENSP00000478821.1:n.*21G>C
NM_001277971.1:c.*21G>C	NP_001264900.1:n.*21G>C
NM_032237.4:c.*21G>C	NP_115613.1:n.*21G>C
XM_011544668.1:c.*21G>C	XP_011542970.1:n.*21G>C
XM_011544669.1:c.*21G>C	XP_011542971.1:n.*21G>C
NM_032237.5:c.*21G>C MANE Select	NP_115613.1:n.*21G>C
NM_001277971.2:c.*21G>C	NP_001264900.1:n.*21G>C