Canonical Allele Identifier: CA1603608746

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404021A= , CM000667.2:g.177404021A=	GRCh38
NC_000005.9:g.176831022A= , CM000667.1:g.176831022A=	GRCh37
NC_000005.8:g.176763628A=	NCBI36
NG_007568.1:g.10556T= , LRG_145:g.10556T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*754T= (F12)	ENSP00000512476.1:n.*754T=
ENST00000696193.1:c.*1475T= (F12)	ENSP00000512477.1:n.*1475T=
ENST00000696194.1:c.*678T= (F12)	ENSP00000512478.1:n.*678T=
ENST00000696195.1:n.3891T= (F12)
ENST00000696200.1:n.1191T= (F12)
ENST00000696201.1:c.1088T= (F12)	ENSP00000512482.1:p.Leu363=
ENST00000253496.4:c.1088T= (F12) MANE Select	ENSP00000253496.3:p.Leu363=
ENST00000253496.3:c.1088T= (F12)	ENSP00000253496.3:p.Leu363=
ENST00000502598.5:c.-45+495A= (GRK6)	ENSP00000422873.1:n.-45+495A=
ENST00000502854.5:n.347T= (F12)
ENST00000503736.1:n.460T= (F12)
ENST00000510358.5:n.452T= (F12)
NM_000505.3:c.1088T= , LRG_145t1:c.1088T= (F12)	NP_000496.2:p.Leu363=
XM_011534461.1:c.1088T= (F12)	XP_011532763.1:p.Leu363=
XM_011534462.1:c.752T= (F12)	XP_011532764.1:p.Leu251=
XM_011534462.2:c.752T= (F12)	XP_011532764.1:p.Leu251=
XM_017009773.2:c.1416+6947A= (SLC34A1)	XP_016865262.1:n.1416+6947A=
NM_000505.4:c.1088T= (F12) MANE Select	NP_000496.2:p.Leu363=