Canonical Allele Identifier: CA1603609797

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404637C= , CM000667.2:g.177404637C=	GRCh38
NC_000005.9:g.176831638C= , CM000667.1:g.176831638C=	GRCh37
NC_000005.8:g.176764244C=	NCBI36
NG_007568.1:g.9940G= , LRG_145:g.9940G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*328G= (F12)	ENSP00000512476.1:n.*328G=
ENST00000696193.1:c.*1032G= (F12)	ENSP00000512477.1:n.*1032G=
ENST00000696194.1:c.*252G= (F12)	ENSP00000512478.1:n.*252G=
ENST00000696195.1:n.3465G= (F12)
ENST00000696200.1:n.765G= (F12)
ENST00000696201.1:c.662G= (F12)	ENSP00000512482.1:p.Arg221=
ENST00000253496.4:c.662G= (F12) MANE Select	ENSP00000253496.3:p.Arg221=
ENST00000253496.3:c.662G= (F12)	ENSP00000253496.3:p.Arg221=
ENST00000502598.5:c.-45+1111C= (GRK6)	ENSP00000422873.1:n.-45+1111C=
ENST00000503736.1:n.172+173G= (F12)
ENST00000506296.5:c.-45+80C= (GRK6)	ENSP00000421055.1:n.-45+80C=
NM_000505.3:c.662G= , LRG_145t1:c.662G= (F12)	NP_000496.2:p.Arg221=
XM_011534461.1:c.662G= (F12)	XP_011532763.1:p.Arg221=
XM_011534462.1:c.326G= (F12)	XP_011532764.1:p.Arg109=
XM_011534462.2:c.326G= (F12)	XP_011532764.1:p.Arg109=
XM_017009773.2:c.1417-7127C= (SLC34A1)	XP_016865262.1:n.1417-7127C=
NM_000505.4:c.662G= (F12) MANE Select	NP_000496.2:p.Arg221=