Canonical Allele Identifier: CA1603608749

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404023C= , CM000667.2:g.177404023C=	GRCh38
NC_000005.9:g.176831024C= , CM000667.1:g.176831024C=	GRCh37
NC_000005.8:g.176763630C=	NCBI36
NG_007568.1:g.10554G= , LRG_145:g.10554G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*752G= (F12)	ENSP00000512476.1:n.*752G=
ENST00000696193.1:c.*1473G= (F12)	ENSP00000512477.1:n.*1473G=
ENST00000696194.1:c.*676G= (F12)	ENSP00000512478.1:n.*676G=
ENST00000696195.1:n.3889G= (F12)
ENST00000696200.1:n.1189G= (F12)
ENST00000696201.1:c.1086G= (F12)	ENSP00000512482.1:p.Arg362=
ENST00000253496.4:c.1086G= (F12) MANE Select	ENSP00000253496.3:p.Arg362=
ENST00000253496.3:c.1086G= (F12)	ENSP00000253496.3:p.Arg362=
ENST00000502598.5:c.-45+497C= (GRK6)	ENSP00000422873.1:n.-45+497C=
ENST00000502854.5:n.345G= (F12)
ENST00000503736.1:n.458G= (F12)
ENST00000510358.5:n.450G= (F12)
NM_000505.3:c.1086G= , LRG_145t1:c.1086G= (F12)	NP_000496.2:p.Arg362=
XM_011534461.1:c.1086G= (F12)	XP_011532763.1:p.Arg362=
XM_011534462.1:c.750G= (F12)	XP_011532764.1:p.Arg250=
XM_011534462.2:c.750G= (F12)	XP_011532764.1:p.Arg250=
XM_017009773.2:c.1416+6949C= (SLC34A1)	XP_016865262.1:n.1416+6949C=
NM_000505.4:c.1086G= (F12) MANE Select	NP_000496.2:p.Arg362=