Canonical Allele Identifier: CA1603609218

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404313C= , CM000667.2:g.177404313C=	GRCh38
NC_000005.9:g.176831314C= , CM000667.1:g.176831314C=	GRCh37
NC_000005.8:g.176763920C=	NCBI36
NG_007568.1:g.10264G= , LRG_145:g.10264G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*567G= (F12)	ENSP00000512476.1:n.*567G=
ENST00000696193.1:c.*1271G= (F12)	ENSP00000512477.1:n.*1271G=
ENST00000696194.1:c.*491G= (F12)	ENSP00000512478.1:n.*491G=
ENST00000696195.1:n.3704G= (F12)
ENST00000696200.1:n.1004G= (F12)
ENST00000696201.1:c.901G= (F12)	ENSP00000512482.1:p.Ala301=
ENST00000253496.4:c.901G= (F12) MANE Select	ENSP00000253496.3:p.Ala301=
ENST00000253496.3:c.901G= (F12)	ENSP00000253496.3:p.Ala301=
ENST00000502598.5:c.-45+787C= (GRK6)	ENSP00000422873.1:n.-45+787C=
ENST00000502854.5:n.160G= (F12)
ENST00000503736.1:n.273G= (F12)
ENST00000510358.5:n.160G= (F12)
NM_000505.3:c.901G= , LRG_145t1:c.901G= (F12)	NP_000496.2:p.Ala301=
XM_011534461.1:c.901G= (F12)	XP_011532763.1:p.Ala301=
XM_011534462.1:c.565G= (F12)	XP_011532764.1:p.Ala189=
XM_011534462.2:c.565G= (F12)	XP_011532764.1:p.Ala189=
XM_017009773.2:c.1416+7239C= (SLC34A1)	XP_016865262.1:n.1416+7239C=
NM_000505.4:c.901G= (F12) MANE Select	NP_000496.2:p.Ala301=