Canonical Allele Identifier: CA1603609660

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404540C= , CM000667.2:g.177404540C=	GRCh38
NC_000005.9:g.176831541C= , CM000667.1:g.176831541C=	GRCh37
NC_000005.8:g.176764147C=	NCBI36
NG_007568.1:g.10037G= , LRG_145:g.10037G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*425G= (F12)	ENSP00000512476.1:n.*425G=
ENST00000696193.1:c.*1129G= (F12)	ENSP00000512477.1:n.*1129G=
ENST00000696194.1:c.*349G= (F12)	ENSP00000512478.1:n.*349G=
ENST00000696195.1:n.3562G= (F12)
ENST00000696200.1:n.862G= (F12)
ENST00000696201.1:c.759G= (F12)	ENSP00000512482.1:p.Glu253=
ENST00000253496.4:c.759G= (F12) MANE Select	ENSP00000253496.3:p.Glu253=
ENST00000253496.3:c.759G= (F12)	ENSP00000253496.3:p.Glu253=
ENST00000502598.5:c.-45+1014C= (GRK6)	ENSP00000422873.1:n.-45+1014C=
ENST00000503736.1:n.173-127G= (F12)
ENST00000506296.5:c.-62C= (GRK6)	ENSP00000421055.1:n.-62C=
NM_000505.3:c.759G= , LRG_145t1:c.759G= (F12)	NP_000496.2:p.Glu253=
XM_011534461.1:c.759G= (F12)	XP_011532763.1:p.Glu253=
XM_011534462.1:c.423G= (F12)	XP_011532764.1:p.Glu141=
XM_011534462.2:c.423G= (F12)	XP_011532764.1:p.Glu141=
XM_017009773.2:c.1417-7224C= (SLC34A1)	XP_016865262.1:n.1417-7224C=
NM_000505.4:c.759G= (F12) MANE Select	NP_000496.2:p.Glu253=