Canonical Allele Identifier: CA4736226

Gene: POMK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43103795C>T , CM000670.2:g.43103795C>T	GRCh38
NC_000008.10:g.42958938C>T , CM000670.1:g.42958938C>T	GRCh37
NC_000008.9:g.43078095C>T	NCBI36
NG_033235.1:g.15290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032237.5:c.247C>T MANE Select	NP_115613.1:p.Gln83Ter
ENST00000331373.10:c.247C>T MANE Select	ENSP00000331258.5:p.Gln83Ter
NM_001277971.1:c.247C>T	NP_001264900.1:p.Gln83Ter
NM_001277971.2:c.247C>T	NP_001264900.1:p.Gln83Ter
NM_032237.4:c.247C>T	NP_115613.1:p.Gln83Ter
ENST00000331373.9:c.247C>T	ENSP00000331258.5:p.Gln83Ter
ENST00000518991.5:c.247C>T	ENSP00000429090.1:p.Gln83Ter
ENST00000518991.6:c.247C>T	ENSP00000429090.2:p.Gln83Ter
ENST00000614426.1:c.247C>T	ENSP00000478821.1:p.Gln83Ter
ENST00000614426.2:c.247C>T	ENSP00000478821.2:p.Gln83Ter
ENST00000674727.1:n.505C>T
ENST00000674782.1:c.247C>T	ENSP00000501683.1:p.Gln83Ter
ENST00000674820.1:c.247C>T	ENSP00000502636.1:p.Gln83Ter
ENST00000674937.1:c.240+7C>T	ENSP00000501823.1:n.240+7C>T
ENST00000675129.1:c.247C>T	ENSP00000501906.1:p.Gln83Ter
ENST00000676178.1:c.247C>T	ENSP00000502007.1:p.Gln83Ter
ENST00000676193.1:c.247C>T	ENSP00000502774.1:p.Gln83Ter
XM_011544668.1:c.247C>T	XP_011542970.1:p.Gln83Ter
XM_011544669.1:c.247C>T	XP_011542971.1:p.Gln83Ter