Canonical Allele Identifier: CA1603608584

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403865T= , CM000667.2:g.177403865T=	GRCh38
NC_000005.9:g.176830866T= , CM000667.1:g.176830866T=	GRCh37
NC_000005.8:g.176763472T=	NCBI36
NG_007568.1:g.10712A= , LRG_145:g.10712A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*910A= (F12)	ENSP00000512476.1:n.*910A=
ENST00000696193.1:c.*1631A= (F12)	ENSP00000512477.1:n.*1631A=
ENST00000696194.1:c.*834A= (F12)	ENSP00000512478.1:n.*834A=
ENST00000696195.1:n.4047A= (F12)
ENST00000696200.1:n.1347A= (F12)
ENST00000696201.1:c.1244A= (F12)	ENSP00000512482.1:p.Gln415=
ENST00000253496.4:c.1244A= (F12) MANE Select	ENSP00000253496.3:p.Gln415=
ENST00000253496.3:c.1244A= (F12)	ENSP00000253496.3:p.Gln415=
ENST00000502598.5:c.-45+339T= (GRK6)	ENSP00000422873.1:n.-45+339T=
ENST00000502854.5:n.503A= (F12)
ENST00000503736.1:n.616A= (F12)
ENST00000510358.5:n.608A= (F12)
NM_000505.3:c.1244A= , LRG_145t1:c.1244A= (F12)	NP_000496.2:p.Gln415=
XM_011534461.1:c.1244A= (F12)	XP_011532763.1:p.Gln415=
XM_011534462.1:c.908A= (F12)	XP_011532764.1:p.Gln303=
XM_011534462.2:c.908A= (F12)	XP_011532764.1:p.Gln303=
XM_017009773.2:c.1416+6791T= (SLC34A1)	XP_016865262.1:n.1416+6791T=
NM_000505.4:c.1244A= (F12) MANE Select	NP_000496.2:p.Gln415=