Canonical Allele Identifier: CA1603609583

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404505A= , CM000667.2:g.177404505A=	GRCh38
NC_000005.9:g.176831506A= , CM000667.1:g.176831506A=	GRCh37
NC_000005.8:g.176764112A=	NCBI36
NG_007568.1:g.10072T= , LRG_145:g.10072T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*460T= (F12)	ENSP00000512476.1:n.*460T=
ENST00000696193.1:c.*1164T= (F12)	ENSP00000512477.1:n.*1164T=
ENST00000696194.1:c.*384T= (F12)	ENSP00000512478.1:n.*384T=
ENST00000696195.1:n.3597T= (F12)
ENST00000696200.1:n.897T= (F12)
ENST00000696201.1:c.794T= (F12)	ENSP00000512482.1:p.Phe265=
ENST00000253496.4:c.794T= (F12) MANE Select	ENSP00000253496.3:p.Phe265=
ENST00000253496.3:c.794T= (F12)	ENSP00000253496.3:p.Phe265=
ENST00000502598.5:c.-45+979A= (GRK6)	ENSP00000422873.1:n.-45+979A=
ENST00000503736.1:n.173-92T= (F12)
ENST00000506296.5:c.-97A= (GRK6)	ENSP00000421055.1:n.-97A=
NM_000505.3:c.794T= , LRG_145t1:c.794T= (F12)	NP_000496.2:p.Phe265=
XM_011534461.1:c.794T= (F12)	XP_011532763.1:p.Phe265=
XM_011534462.1:c.458T= (F12)	XP_011532764.1:p.Phe153=
XM_011534462.2:c.458T= (F12)	XP_011532764.1:p.Phe153=
XM_017009773.2:c.1417-7259A= (SLC34A1)	XP_016865262.1:n.1417-7259A=
NM_000505.4:c.794T= (F12) MANE Select	NP_000496.2:p.Phe265=