Canonical Allele Identifier: CA1603609081

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404260C= , CM000667.2:g.177404260C=	GRCh38
NC_000005.9:g.176831261C= , CM000667.1:g.176831261C=	GRCh37
NC_000005.8:g.176763867C=	NCBI36
NG_007568.1:g.10317G= , LRG_145:g.10317G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*620G= (F12)	ENSP00000512476.1:n.*620G=
ENST00000696193.1:c.*1324G= (F12)	ENSP00000512477.1:n.*1324G=
ENST00000696194.1:c.*544G= (F12)	ENSP00000512478.1:n.*544G=
ENST00000696195.1:n.3757G= (F12)
ENST00000696200.1:n.1057G= (F12)
ENST00000696201.1:c.954G= (F12)	ENSP00000512482.1:p.Ala318=
ENST00000253496.4:c.954G= (F12) MANE Select	ENSP00000253496.3:p.Ala318=
ENST00000253496.3:c.954G= (F12)	ENSP00000253496.3:p.Ala318=
ENST00000502598.5:c.-45+734C= (GRK6)	ENSP00000422873.1:n.-45+734C=
ENST00000502854.5:n.213G= (F12)
ENST00000503736.1:n.326G= (F12)
ENST00000510358.5:n.213G= (F12)
NM_000505.3:c.954G= , LRG_145t1:c.954G= (F12)	NP_000496.2:p.Ala318=
XM_011534461.1:c.954G= (F12)	XP_011532763.1:p.Ala318=
XM_011534462.1:c.618G= (F12)	XP_011532764.1:p.Ala206=
XM_011534462.2:c.618G= (F12)	XP_011532764.1:p.Ala206=
XM_017009773.2:c.1416+7186C= (SLC34A1)	XP_016865262.1:n.1416+7186C=
NM_000505.4:c.954G= (F12) MANE Select	NP_000496.2:p.Ala318=