Canonical Allele Identifier: CA1603609823

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404658T= , CM000667.2:g.177404658T=	GRCh38
NC_000005.9:g.176831659T= , CM000667.1:g.176831659T=	GRCh37
NC_000005.8:g.176764265T=	NCBI36
NG_007568.1:g.9919A= , LRG_145:g.9919A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*307A= (F12)	ENSP00000512476.1:n.*307A=
ENST00000696193.1:c.*1011A= (F12)	ENSP00000512477.1:n.*1011A=
ENST00000696194.1:c.*231A= (F12)	ENSP00000512478.1:n.*231A=
ENST00000696195.1:n.3444A= (F12)
ENST00000696200.1:n.744A= (F12)
ENST00000696201.1:c.641A= (F12)	ENSP00000512482.1:p.Lys214=
ENST00000253496.4:c.641A= (F12) MANE Select	ENSP00000253496.3:p.Lys214=
ENST00000253496.3:c.641A= (F12)	ENSP00000253496.3:p.Lys214=
ENST00000502598.5:c.-45+1132T= (GRK6)	ENSP00000422873.1:n.-45+1132T=
ENST00000503736.1:n.172+152A= (F12)
ENST00000506296.5:c.-45+101T= (GRK6)	ENSP00000421055.1:n.-45+101T=
NM_000505.3:c.641A= , LRG_145t1:c.641A= (F12)	NP_000496.2:p.Lys214=
XM_011534461.1:c.641A= (F12)	XP_011532763.1:p.Lys214=
XM_011534462.1:c.305A= (F12)	XP_011532764.1:p.Lys102=
XM_011534462.2:c.305A= (F12)	XP_011532764.1:p.Lys102=
XM_017009773.2:c.1417-7106T= (SLC34A1)	XP_016865262.1:n.1417-7106T=
NM_000505.4:c.641A= (F12) MANE Select	NP_000496.2:p.Lys214=