Canonical Allele Identifier: CA1779747353

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122415G= , CM000670.2:g.43122415G=	GRCh38
NC_000008.10:g.42977558G= , CM000670.1:g.42977558G=	GRCh37
NC_000008.9:g.43096715G=	NCBI36
NG_033235.1:g.33910G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.591G= MANE Select	ENSP00000331258.5:p.Val197=
ENST00000614426.2:c.*387G=	ENSP00000478821.2:n.*387G=
ENST00000674646.1:c.309G=	ENSP00000501703.1:p.Val103=
ENST00000674676.1:c.309G=	ENSP00000502544.1:p.Val103=
ENST00000674782.1:c.*511G=	ENSP00000501683.1:n.*511G=
ENST00000674937.1:c.549G=	ENSP00000501823.1:p.Val183=
ENST00000675322.1:c.309G=	ENSP00000502235.1:p.Val103=
ENST00000675675.1:c.309G=	ENSP00000501793.1:p.Val103=
ENST00000676178.1:c.*376G=	ENSP00000502007.1:n.*376G=
ENST00000676193.1:c.591G=	ENSP00000502774.1:p.Val197=
ENST00000331373.9:c.591G=	ENSP00000331258.5:p.Val197=
ENST00000614426.1:c.591G=	ENSP00000478821.1:p.Val197=
NM_001277971.1:c.591G=	NP_001264900.1:p.Val197=
NM_032237.4:c.591G=	NP_115613.1:p.Val197=
XM_011544668.1:c.591G=	XP_011542970.1:p.Val197=
XM_011544669.1:c.591G=	XP_011542971.1:p.Val197=
NM_032237.5:c.591G= MANE Select	NP_115613.1:p.Val197=
NM_001277971.2:c.591G=	NP_001264900.1:p.Val197=