Canonical Allele Identifier: CA1603612747

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406050T= , CM000667.2:g.177406050T=	GRCh38
NC_000005.9:g.176833051T= , CM000667.1:g.176833051T=	GRCh37
NC_000005.8:g.176765657T=	NCBI36
NG_007568.1:g.8527A= , LRG_145:g.8527A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.127A= (F12)	ENSP00000512476.1:p.Thr43=
ENST00000696193.1:c.*51A= (F12)	ENSP00000512477.1:n.*51A=
ENST00000696194.1:c.127A= (F12)	ENSP00000512478.1:p.Thr43=
ENST00000696195.1:n.2484A= (F12)
ENST00000696200.1:n.230A= (F12)
ENST00000696201.1:c.127A= (F12)	ENSP00000512482.1:p.Thr43=
ENST00000253496.4:c.127A= (F12) MANE Select	ENSP00000253496.3:p.Thr43=
ENST00000253496.3:c.127A= (F12)	ENSP00000253496.3:p.Thr43=
ENST00000502598.5:c.-45+2524T= (GRK6)	ENSP00000422873.1:n.-45+2524T=
ENST00000506296.5:c.-45+1493T= (GRK6)	ENSP00000421055.1:n.-45+1493T=
NM_000505.3:c.127A= , LRG_145t1:c.127A= (F12)	NP_000496.2:p.Thr43=
XM_011534461.1:c.127A= (F12)	XP_011532763.1:p.Thr43=
XM_017009773.2:c.1417-5714T= (SLC34A1)	XP_016865262.1:n.1417-5714T=
NM_000505.4:c.127A= (F12) MANE Select	NP_000496.2:p.Thr43=