Canonical Allele Identifier: CA3581169

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403357C>T , CM000667.2:g.177403357C>T	GRCh38
NC_000005.9:g.176830358C>T , CM000667.1:g.176830358C>T	GRCh37
NC_000005.8:g.176762964C>T	NCBI36
NG_007568.1:g.11220G>A , LRG_145:g.11220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*1094G>A (F12)	ENSP00000512476.1:n.*1094G>A
ENST00000696193.1:c.*1815G>A (F12)	ENSP00000512477.1:n.*1815G>A
ENST00000696194.1:c.*1018G>A (F12)	ENSP00000512478.1:n.*1018G>A
ENST00000696195.1:n.4231G>A (F12)
ENST00000696200.1:n.1772G>A (F12)
ENST00000696201.1:c.1428G>A (F12)	ENSP00000512482.1:p.Ala476=
ENST00000253496.4:c.1428G>A (F12) MANE Select	ENSP00000253496.3:p.Ala476=
ENST00000253496.3:c.1428G>A (F12)	ENSP00000253496.3:p.Ala476=
ENST00000502598.5:c.-214C>T (GRK6)	ENSP00000422873.1:n.-214C>T
ENST00000502854.5:n.928G>A (F12)
ENST00000504406.5:n.394G>A (F12)
ENST00000510358.5:n.1033G>A (F12)
ENST00000514943.1:n.87G>A (F12)
NM_000505.3:c.1428G>A , LRG_145t1:c.1428G>A (F12)	NP_000496.2:p.Ala476=
XM_011534461.1:c.1428G>A (F12)	XP_011532763.1:p.Ala476=
XM_011534462.1:c.1092G>A (F12)	XP_011532764.1:p.Ala364=
XM_011534462.2:c.1092G>A (F12)	XP_011532764.1:p.Ala364=
XM_017009773.2:c.1416+6283C>T (SLC34A1)	XP_016865262.1:n.1416+6283C>T
NM_000505.4:c.1428G>A (F12) MANE Select	NP_000496.2:p.Ala476=