Canonical Allele Identifier: CA114819

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 1170
• ClinVar RCV Id: RCV000001229 ; RCV000414902 ; RCV001198361
• dbSNP Id: rs118204456
• MyVariant Identifiers: chr5:g.176831232G>C (hg19) ; chr5:g.177404231G>C (hg38)
• PubMed: PMID:16638441

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404231G>C , CM000667.2:g.177404231G>C	GRCh38
NC_000005.9:g.176831232G>C , CM000667.1:g.176831232G>C	GRCh37
NC_000005.8:g.176763838G>C	NCBI36
NG_007568.1:g.10346C>G , LRG_145:g.10346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*649C>G (F12)	ENSP00000512476.1:n.*649C>G
ENST00000696193.1:c.*1353C>G (F12)	ENSP00000512477.1:n.*1353C>G
ENST00000696194.1:c.*573C>G (F12)	ENSP00000512478.1:n.*573C>G
ENST00000696195.1:n.3786C>G (F12)
ENST00000696200.1:n.1086C>G (F12)
ENST00000696201.1:c.983C>G (F12)	ENSP00000512482.1:p.Thr328Arg
ENST00000253496.4:c.983C>G (F12) MANE Select	ENSP00000253496.3:p.Thr328Arg
ENST00000253496.3:c.983C>G (F12)	ENSP00000253496.3:p.Thr328Arg
ENST00000502598.5:c.-45+705G>C (GRK6)	ENSP00000422873.1:n.-45+705G>C
ENST00000502854.5:n.242C>G (F12)
ENST00000503736.1:n.355C>G (F12)
ENST00000510358.5:n.242C>G (F12)
NM_000505.3:c.983C>G , LRG_145t1:c.983C>G (F12)	NP_000496.2:p.Thr328Arg
XM_011534461.1:c.983C>G (F12)	XP_011532763.1:p.Thr328Arg
XM_011534462.1:c.647C>G (F12)	XP_011532764.1:p.Thr216Arg
XM_011534462.2:c.647C>G (F12)	XP_011532764.1:p.Thr216Arg
XM_017009773.2:c.1416+7157G>C (SLC34A1)	XP_016865262.1:n.1416+7157G>C
NM_000505.4:c.983C>G (F12) MANE Select	NP_000496.2:p.Thr328Arg