Canonical Allele Identifier: CA1603609272

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404339A= , CM000667.2:g.177404339A=	GRCh38
NC_000005.9:g.176831340A= , CM000667.1:g.176831340A=	GRCh37
NC_000005.8:g.176763946A=	NCBI36
NG_007568.1:g.10238T= , LRG_145:g.10238T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*541T= (F12)	ENSP00000512476.1:n.*541T=
ENST00000696193.1:c.*1245T= (F12)	ENSP00000512477.1:n.*1245T=
ENST00000696194.1:c.*465T= (F12)	ENSP00000512478.1:n.*465T=
ENST00000696195.1:n.3678T= (F12)
ENST00000696200.1:n.978T= (F12)
ENST00000696201.1:c.875T= (F12)	ENSP00000512482.1:p.Leu292=
ENST00000253496.4:c.875T= (F12) MANE Select	ENSP00000253496.3:p.Leu292=
ENST00000253496.3:c.875T= (F12)	ENSP00000253496.3:p.Leu292=
ENST00000502598.5:c.-45+813A= (GRK6)	ENSP00000422873.1:n.-45+813A=
ENST00000502854.5:n.134T= (F12)
ENST00000503736.1:n.247T= (F12)
ENST00000510358.5:n.134T= (F12)
NM_000505.3:c.875T= , LRG_145t1:c.875T= (F12)	NP_000496.2:p.Leu292=
XM_011534461.1:c.875T= (F12)	XP_011532763.1:p.Leu292=
XM_011534462.1:c.539T= (F12)	XP_011532764.1:p.Leu180=
XM_011534462.2:c.539T= (F12)	XP_011532764.1:p.Leu180=
XM_017009773.2:c.1416+7265A= (SLC34A1)	XP_016865262.1:n.1416+7265A=
NM_000505.4:c.875T= (F12) MANE Select	NP_000496.2:p.Leu292=