Canonical Allele Identifier: CA1603609237

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404322G= , CM000667.2:g.177404322G=	GRCh38
NC_000005.9:g.176831323G= , CM000667.1:g.176831323G=	GRCh37
NC_000005.8:g.176763929G=	NCBI36
NG_007568.1:g.10255C= , LRG_145:g.10255C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*558C= (F12)	ENSP00000512476.1:n.*558C=
ENST00000696193.1:c.*1262C= (F12)	ENSP00000512477.1:n.*1262C=
ENST00000696194.1:c.*482C= (F12)	ENSP00000512478.1:n.*482C=
ENST00000696195.1:n.3695C= (F12)
ENST00000696200.1:n.995C= (F12)
ENST00000696201.1:c.892C= (F12)	ENSP00000512482.1:p.Pro298=
ENST00000253496.4:c.892C= (F12) MANE Select	ENSP00000253496.3:p.Pro298=
ENST00000253496.3:c.892C= (F12)	ENSP00000253496.3:p.Pro298=
ENST00000502598.5:c.-45+796G= (GRK6)	ENSP00000422873.1:n.-45+796G=
ENST00000502854.5:n.151C= (F12)
ENST00000503736.1:n.264C= (F12)
ENST00000510358.5:n.151C= (F12)
NM_000505.3:c.892C= , LRG_145t1:c.892C= (F12)	NP_000496.2:p.Pro298=
XM_011534461.1:c.892C= (F12)	XP_011532763.1:p.Pro298=
XM_011534462.1:c.556C= (F12)	XP_011532764.1:p.Pro186=
XM_011534462.2:c.556C= (F12)	XP_011532764.1:p.Pro186=
XM_017009773.2:c.1416+7248G= (SLC34A1)	XP_016865262.1:n.1416+7248G=
NM_000505.4:c.892C= (F12) MANE Select	NP_000496.2:p.Pro298=