Canonical Allele Identifier: CA447964905

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831595A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404594A>T , CM000667.2:g.177404594A>T	GRCh38
NC_000005.9:g.176831595A>T , CM000667.1:g.176831595A>T	GRCh37
NC_000005.8:g.176764201A>T	NCBI36
NG_007568.1:g.9983T>A , LRG_145:g.9983T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*371T>A (F12)	ENSP00000512476.1:n.*371T>A
ENST00000696193.1:c.*1075T>A (F12)	ENSP00000512477.1:n.*1075T>A
ENST00000696194.1:c.*295T>A (F12)	ENSP00000512478.1:n.*295T>A
ENST00000696195.1:n.3508T>A (F12)
ENST00000696200.1:n.808T>A (F12)
ENST00000696201.1:c.705T>A (F12)	ENSP00000512482.1:p.Gly235=
ENST00000253496.4:c.705T>A (F12) MANE Select	ENSP00000253496.3:p.Gly235=
ENST00000253496.3:c.705T>A (F12)	ENSP00000253496.3:p.Gly235=
ENST00000502598.5:c.-45+1068A>T (GRK6)	ENSP00000422873.1:n.-45+1068A>T
ENST00000503736.1:n.173-181T>A (F12)
ENST00000506296.5:c.-45+37A>T (GRK6)	ENSP00000421055.1:n.-45+37A>T
NM_000505.3:c.705T>A , LRG_145t1:c.705T>A (F12)	NP_000496.2:p.Gly235=
XM_011534461.1:c.705T>A (F12)	XP_011532763.1:p.Gly235=
XM_011534462.1:c.369T>A (F12)	XP_011532764.1:p.Gly123=
XM_011534462.2:c.369T>A (F12)	XP_011532764.1:p.Gly123=
XM_017009773.2:c.1417-7170A>T (SLC34A1)	XP_016865262.1:n.1417-7170A>T
NM_000505.4:c.705T>A (F12) MANE Select	NP_000496.2:p.Gly235=