Canonical Allele Identifier: CA1603608582

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403864C= , CM000667.2:g.177403864C=	GRCh38
NC_000005.9:g.176830865C= , CM000667.1:g.176830865C=	GRCh37
NC_000005.8:g.176763471C=	NCBI36
NG_007568.1:g.10713G= , LRG_145:g.10713G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*911G= (F12)	ENSP00000512476.1:n.*911G=
ENST00000696193.1:c.*1632G= (F12)	ENSP00000512477.1:n.*1632G=
ENST00000696194.1:c.*835G= (F12)	ENSP00000512478.1:n.*835G=
ENST00000696195.1:n.4048G= (F12)
ENST00000696200.1:n.1348G= (F12)
ENST00000696201.1:c.1245G= (F12)	ENSP00000512482.1:p.Gln415=
ENST00000253496.4:c.1245G= (F12) MANE Select	ENSP00000253496.3:p.Gln415=
ENST00000253496.3:c.1245G= (F12)	ENSP00000253496.3:p.Gln415=
ENST00000502598.5:c.-45+338C= (GRK6)	ENSP00000422873.1:n.-45+338C=
ENST00000502854.5:n.504G= (F12)
ENST00000503736.1:n.617G= (F12)
ENST00000510358.5:n.609G= (F12)
NM_000505.3:c.1245G= , LRG_145t1:c.1245G= (F12)	NP_000496.2:p.Gln415=
XM_011534461.1:c.1245G= (F12)	XP_011532763.1:p.Gln415=
XM_011534462.1:c.909G= (F12)	XP_011532764.1:p.Gln303=
XM_011534462.2:c.909G= (F12)	XP_011532764.1:p.Gln303=
XM_017009773.2:c.1416+6790C= (SLC34A1)	XP_016865262.1:n.1416+6790C=
NM_000505.4:c.1245G= (F12) MANE Select	NP_000496.2:p.Gln415=