Canonical Allele Identifier: CA1603609131

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404279T= , CM000667.2:g.177404279T=	GRCh38
NC_000005.9:g.176831280T= , CM000667.1:g.176831280T=	GRCh37
NC_000005.8:g.176763886T=	NCBI36
NG_007568.1:g.10298A= , LRG_145:g.10298A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*601A= (F12)	ENSP00000512476.1:n.*601A=
ENST00000696193.1:c.*1305A= (F12)	ENSP00000512477.1:n.*1305A=
ENST00000696194.1:c.*525A= (F12)	ENSP00000512478.1:n.*525A=
ENST00000696195.1:n.3738A= (F12)
ENST00000696200.1:n.1038A= (F12)
ENST00000696201.1:c.935A= (F12)	ENSP00000512482.1:p.His312=
ENST00000253496.4:c.935A= (F12) MANE Select	ENSP00000253496.3:p.His312=
ENST00000253496.3:c.935A= (F12)	ENSP00000253496.3:p.His312=
ENST00000502598.5:c.-45+753T= (GRK6)	ENSP00000422873.1:n.-45+753T=
ENST00000502854.5:n.194A= (F12)
ENST00000503736.1:n.307A= (F12)
ENST00000510358.5:n.194A= (F12)
NM_000505.3:c.935A= , LRG_145t1:c.935A= (F12)	NP_000496.2:p.His312=
XM_011534461.1:c.935A= (F12)	XP_011532763.1:p.His312=
XM_011534462.1:c.599A= (F12)	XP_011532764.1:p.His200=
XM_011534462.2:c.599A= (F12)	XP_011532764.1:p.His200=
XM_017009773.2:c.1416+7205T= (SLC34A1)	XP_016865262.1:n.1416+7205T=
NM_000505.4:c.935A= (F12) MANE Select	NP_000496.2:p.His312=