Canonical Allele Identifier: CA4270014

Gene: PHKG1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.56081269G>A , CM000669.2:g.56081269G>A	GRCh38
NC_000007.13:g.56148962G>A , CM000669.1:g.56148962G>A	GRCh37
NC_000007.12:g.56116456G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006213.5:c.949C>T MANE Select	NP_006204.1:p.Arg317Trp
ENST00000297373.7:c.949C>T MANE Select	ENSP00000297373.2:p.Arg317Trp
NM_001258459.1:c.1045C>T	NP_001245388.1:p.Arg349Trp
NM_001258459.2:c.1045C>T	NP_001245388.1:p.Arg349Trp
NM_001258460.1:c.922C>T	NP_001245389.1:p.Arg308Trp
NM_001258460.2:c.922C>T	NP_001245389.1:p.Arg308Trp
NM_006213.4:c.949C>T	NP_006204.1:p.Arg317Trp
NR_047689.1:n.1089C>T
NR_047689.2:n.1045C>T
ENST00000297373.6:c.949C>T	ENSP00000297373.2:p.Arg317Trp
ENST00000452681.6:c.1045C>T	ENSP00000445440.1:p.Arg349Trp
ENST00000537360.5:c.958C>T	ENSP00000441528.2:p.Arg320Trp
XM_005271772.3:c.715C>T	XP_005271829.1:p.Arg239Trp
XM_005271772.5:c.715C>T	XP_005271829.1:p.Arg239Trp
XM_017012324.2:c.1084C>T	XP_016867813.1:p.Arg362Trp
XM_017012325.2:c.922C>T	XP_016867814.1:p.Arg308Trp
XM_017012326.2:c.850C>T	XP_016867815.1:p.Arg284Trp
XM_017012327.2:c.766C>T	XP_016867816.1:p.Arg256Trp