Canonical Allele Identifier: CA371122224

Gene: POMK

Linked Data

• MyVariant Identifiers: chr8:g.42977548A>C (hg19) ; chr8:g.43122405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122405A>C , CM000670.2:g.43122405A>C	GRCh38
NC_000008.10:g.42977548A>C , CM000670.1:g.42977548A>C	GRCh37
NC_000008.9:g.43096705A>C	NCBI36
NG_033235.1:g.33900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.581A>C MANE Select	ENSP00000331258.5:p.His194Pro
ENST00000614426.2:c.*377A>C	ENSP00000478821.2:n.*377A>C
ENST00000674646.1:c.299A>C	ENSP00000501703.1:p.His100Pro
ENST00000674676.1:c.299A>C	ENSP00000502544.1:p.His100Pro
ENST00000674782.1:c.*501A>C	ENSP00000501683.1:n.*501A>C
ENST00000674937.1:c.539A>C	ENSP00000501823.1:p.His180Pro
ENST00000675322.1:c.299A>C	ENSP00000502235.1:p.His100Pro
ENST00000675675.1:c.299A>C	ENSP00000501793.1:p.His100Pro
ENST00000676178.1:c.*366A>C	ENSP00000502007.1:n.*366A>C
ENST00000676193.1:c.581A>C	ENSP00000502774.1:p.His194Pro
ENST00000331373.9:c.581A>C	ENSP00000331258.5:p.His194Pro
ENST00000614426.1:c.581A>C	ENSP00000478821.1:p.His194Pro
NM_001277971.1:c.581A>C	NP_001264900.1:p.His194Pro
NM_032237.4:c.581A>C	NP_115613.1:p.His194Pro
XM_011544668.1:c.581A>C	XP_011542970.1:p.His194Pro
XM_011544669.1:c.581A>C	XP_011542971.1:p.His194Pro
NM_032237.5:c.581A>C MANE Select	NP_115613.1:p.His194Pro
NM_001277971.2:c.581A>C	NP_001264900.1:p.His194Pro