Canonical Allele Identifier: CA1603608664

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403948G= , CM000667.2:g.177403948G=	GRCh38
NC_000005.9:g.176830949G= , CM000667.1:g.176830949G=	GRCh37
NC_000005.8:g.176763555G=	NCBI36
NG_007568.1:g.10629C= , LRG_145:g.10629C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*827C= (F12)	ENSP00000512476.1:n.*827C=
ENST00000696193.1:c.*1548C= (F12)	ENSP00000512477.1:n.*1548C=
ENST00000696194.1:c.*751C= (F12)	ENSP00000512478.1:n.*751C=
ENST00000696195.1:n.3964C= (F12)
ENST00000696200.1:n.1264C= (F12)
ENST00000696201.1:c.1161C= (F12)	ENSP00000512482.1:p.Ile387=
ENST00000253496.4:c.1161C= (F12) MANE Select	ENSP00000253496.3:p.Ile387=
ENST00000253496.3:c.1161C= (F12)	ENSP00000253496.3:p.Ile387=
ENST00000502598.5:c.-45+422G= (GRK6)	ENSP00000422873.1:n.-45+422G=
ENST00000502854.5:n.420C= (F12)
ENST00000503736.1:n.533C= (F12)
ENST00000510358.5:n.525C= (F12)
NM_000505.3:c.1161C= , LRG_145t1:c.1161C= (F12)	NP_000496.2:p.Ile387=
XM_011534461.1:c.1161C= (F12)	XP_011532763.1:p.Ile387=
XM_011534462.1:c.825C= (F12)	XP_011532764.1:p.Ile275=
XM_011534462.2:c.825C= (F12)	XP_011532764.1:p.Ile275=
XM_017009773.2:c.1416+6874G= (SLC34A1)	XP_016865262.1:n.1416+6874G=
NM_000505.4:c.1161C= (F12) MANE Select	NP_000496.2:p.Ile387=