Canonical Allele Identifier: CA1603612622

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406006C= , CM000667.2:g.177406006C=	GRCh38
NC_000005.9:g.176833007C= , CM000667.1:g.176833007C=	GRCh37
NC_000005.8:g.176765613C=	NCBI36
NG_007568.1:g.8571G= , LRG_145:g.8571G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.171G= (F12)	ENSP00000512476.1:p.Leu57=
ENST00000696193.1:c.*95G= (F12)	ENSP00000512477.1:n.*95G=
ENST00000696194.1:c.171G= (F12)	ENSP00000512478.1:p.Leu57=
ENST00000696195.1:n.2528G= (F12)
ENST00000696200.1:n.274G= (F12)
ENST00000696201.1:c.171G= (F12)	ENSP00000512482.1:p.Leu57=
ENST00000253496.4:c.171G= (F12) MANE Select	ENSP00000253496.3:p.Leu57=
ENST00000253496.3:c.171G= (F12)	ENSP00000253496.3:p.Leu57=
ENST00000502598.5:c.-45+2480C= (GRK6)	ENSP00000422873.1:n.-45+2480C=
ENST00000506296.5:c.-45+1449C= (GRK6)	ENSP00000421055.1:n.-45+1449C=
NM_000505.3:c.171G= , LRG_145t1:c.171G= (F12)	NP_000496.2:p.Leu57=
XM_011534461.1:c.171G= (F12)	XP_011532763.1:p.Leu57=
XM_017009773.2:c.1417-5758C= (SLC34A1)	XP_016865262.1:n.1417-5758C=
NM_000505.4:c.171G= (F12) MANE Select	NP_000496.2:p.Leu57=