Canonical Allele Identifier: CA2769564022

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404688G>C , CM000667.2:g.177404688G>C	GRCh38
NC_000005.9:g.176831689G>C , CM000667.1:g.176831689G>C	GRCh37
NC_000005.8:g.176764295G>C	NCBI36
NG_007568.1:g.9889C>G , LRG_145:g.9889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*301-24C>G (F12)	ENSP00000512476.1:n.*301-24C>G
ENST00000696193.1:c.*981C>G (F12)	ENSP00000512477.1:n.*981C>G
ENST00000696194.1:c.*225-24C>G (F12)	ENSP00000512478.1:n.*225-24C>G
ENST00000696195.1:n.3414C>G (F12)
ENST00000696200.1:n.738-24C>G (F12)
ENST00000696201.1:c.635-24C>G (F12)	ENSP00000512482.1:n.635-24C>G
ENST00000253496.4:c.635-24C>G (F12) MANE Select	ENSP00000253496.3:n.635-24C>G
ENST00000253496.3:c.635-24C>G (F12)	ENSP00000253496.3:n.635-24C>G
ENST00000502598.5:c.-45+1162G>C (GRK6)	ENSP00000422873.1:n.-45+1162G>C
ENST00000503736.1:n.172+122C>G (F12)
ENST00000506296.5:c.-45+131G>C (GRK6)	ENSP00000421055.1:n.-45+131G>C
NM_000505.3:c.635-24C>G , LRG_145t1:c.635-24C>G (F12)	NP_000496.2:n.635-24C>G
XM_011534461.1:c.635-24C>G (F12)	XP_011532763.1:n.635-24C>G
XM_011534462.1:c.299-24C>G (F12)	XP_011532764.1:n.299-24C>G
XM_011534462.2:c.299-24C>G (F12)	XP_011532764.1:n.299-24C>G
XM_017009773.2:c.1417-7076G>C (SLC34A1)	XP_016865262.1:n.1417-7076G>C
NM_000505.4:c.635-24C>G (F12) MANE Select	NP_000496.2:n.635-24C>G