Canonical Allele Identifier: CA1603612711

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406035G= , CM000667.2:g.177406035G=	GRCh38
NC_000005.9:g.176833036G= , CM000667.1:g.176833036G=	GRCh37
NC_000005.8:g.176765642G=	NCBI36
NG_007568.1:g.8542C= , LRG_145:g.8542C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.142C= (F12)	ENSP00000512476.1:p.His48=
ENST00000696193.1:c.*66C= (F12)	ENSP00000512477.1:n.*66C=
ENST00000696194.1:c.142C= (F12)	ENSP00000512478.1:p.His48=
ENST00000696195.1:n.2499C= (F12)
ENST00000696200.1:n.245C= (F12)
ENST00000696201.1:c.142C= (F12)	ENSP00000512482.1:p.His48=
ENST00000253496.4:c.142C= (F12) MANE Select	ENSP00000253496.3:p.His48=
ENST00000253496.3:c.142C= (F12)	ENSP00000253496.3:p.His48=
ENST00000502598.5:c.-45+2509G= (GRK6)	ENSP00000422873.1:n.-45+2509G=
ENST00000506296.5:c.-45+1478G= (GRK6)	ENSP00000421055.1:n.-45+1478G=
NM_000505.3:c.142C= , LRG_145t1:c.142C= (F12)	NP_000496.2:p.His48=
XM_011534461.1:c.142C= (F12)	XP_011532763.1:p.His48=
XM_017009773.2:c.1417-5729G= (SLC34A1)	XP_016865262.1:n.1417-5729G=
NM_000505.4:c.142C= (F12) MANE Select	NP_000496.2:p.His48=