Canonical Allele Identifier: CA447965034

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831054G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404053G>A , CM000667.2:g.177404053G>A	GRCh38
NC_000005.9:g.176831054G>A , CM000667.1:g.176831054G>A	GRCh37
NC_000005.8:g.176763660G>A	NCBI36
NG_007568.1:g.10524C>T , LRG_145:g.10524C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*722C>T (F12)	ENSP00000512476.1:n.*722C>T
ENST00000696193.1:c.*1443C>T (F12)	ENSP00000512477.1:n.*1443C>T
ENST00000696194.1:c.*646C>T (F12)	ENSP00000512478.1:n.*646C>T
ENST00000696195.1:n.3859C>T (F12)
ENST00000696200.1:n.1159C>T (F12)
ENST00000696201.1:c.1056C>T (F12)	ENSP00000512482.1:p.Thr352=
ENST00000253496.4:c.1056C>T (F12) MANE Select	ENSP00000253496.3:p.Thr352=
ENST00000253496.3:c.1056C>T (F12)	ENSP00000253496.3:p.Thr352=
ENST00000502598.5:c.-45+527G>A (GRK6)	ENSP00000422873.1:n.-45+527G>A
ENST00000502854.5:n.315C>T (F12)
ENST00000503736.1:n.428C>T (F12)
ENST00000510358.5:n.420C>T (F12)
NM_000505.3:c.1056C>T , LRG_145t1:c.1056C>T (F12)	NP_000496.2:p.Thr352=
XM_011534461.1:c.1056C>T (F12)	XP_011532763.1:p.Thr352=
XM_011534462.1:c.720C>T (F12)	XP_011532764.1:p.Thr240=
XM_011534462.2:c.720C>T (F12)	XP_011532764.1:p.Thr240=
XM_017009773.2:c.1416+6979G>A (SLC34A1)	XP_016865262.1:n.1416+6979G>A
NM_000505.4:c.1056C>T (F12) MANE Select	NP_000496.2:p.Thr352=