Canonical Allele Identifier: CA362328366

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 904494
• ClinVar RCV Id: RCV001152452 ; RCV001152453
• dbSNP Id: rs1763225226
• MyVariant Identifiers: chr5:g.176831258C>G (hg19) ; chr5:g.177404257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404257C>G , CM000667.2:g.177404257C>G	GRCh38
NC_000005.9:g.176831258C>G , CM000667.1:g.176831258C>G	GRCh37
NC_000005.8:g.176763864C>G	NCBI36
NG_007568.1:g.10320G>C , LRG_145:g.10320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*623G>C (F12)	ENSP00000512476.1:n.*623G>C
ENST00000696193.1:c.*1327G>C (F12)	ENSP00000512477.1:n.*1327G>C
ENST00000696194.1:c.*547G>C (F12)	ENSP00000512478.1:n.*547G>C
ENST00000696195.1:n.3760G>C (F12)
ENST00000696200.1:n.1060G>C (F12)
ENST00000696201.1:c.957G>C (F12)	ENSP00000512482.1:p.Gln319His
ENST00000253496.4:c.957G>C (F12) MANE Select	ENSP00000253496.3:p.Gln319His
ENST00000253496.3:c.957G>C (F12)	ENSP00000253496.3:p.Gln319His
ENST00000502598.5:c.-45+731C>G (GRK6)	ENSP00000422873.1:n.-45+731C>G
ENST00000502854.5:n.216G>C (F12)
ENST00000503736.1:n.329G>C (F12)
ENST00000510358.5:n.216G>C (F12)
NM_000505.3:c.957G>C , LRG_145t1:c.957G>C (F12)	NP_000496.2:p.Gln319His
XM_011534461.1:c.957G>C (F12)	XP_011532763.1:p.Gln319His
XM_011534462.1:c.621G>C (F12)	XP_011532764.1:p.Gln207His
XM_011534462.2:c.621G>C (F12)	XP_011532764.1:p.Gln207His
XM_017009773.2:c.1416+7183C>G (SLC34A1)	XP_016865262.1:n.1416+7183C>G
NM_000505.4:c.957G>C (F12) MANE Select	NP_000496.2:p.Gln319His