Canonical Allele Identifier: CA1603608586

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403867C= , CM000667.2:g.177403867C=	GRCh38
NC_000005.9:g.176830868C= , CM000667.1:g.176830868C=	GRCh37
NC_000005.8:g.176763474C=	NCBI36
NG_007568.1:g.10710G= , LRG_145:g.10710G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*908G= (F12)	ENSP00000512476.1:n.*908G=
ENST00000696193.1:c.*1629G= (F12)	ENSP00000512477.1:n.*1629G=
ENST00000696194.1:c.*832G= (F12)	ENSP00000512478.1:n.*832G=
ENST00000696195.1:n.4045G= (F12)
ENST00000696200.1:n.1345G= (F12)
ENST00000696201.1:c.1242G= (F12)	ENSP00000512482.1:p.Leu414=
ENST00000253496.4:c.1242G= (F12) MANE Select	ENSP00000253496.3:p.Leu414=
ENST00000253496.3:c.1242G= (F12)	ENSP00000253496.3:p.Leu414=
ENST00000502598.5:c.-45+341C= (GRK6)	ENSP00000422873.1:n.-45+341C=
ENST00000502854.5:n.501G= (F12)
ENST00000503736.1:n.614G= (F12)
ENST00000510358.5:n.606G= (F12)
NM_000505.3:c.1242G= , LRG_145t1:c.1242G= (F12)	NP_000496.2:p.Leu414=
XM_011534461.1:c.1242G= (F12)	XP_011532763.1:p.Leu414=
XM_011534462.1:c.906G= (F12)	XP_011532764.1:p.Leu302=
XM_011534462.2:c.906G= (F12)	XP_011532764.1:p.Leu302=
XM_017009773.2:c.1416+6793C= (SLC34A1)	XP_016865262.1:n.1416+6793C=
NM_000505.4:c.1242G= (F12) MANE Select	NP_000496.2:p.Leu414=