Canonical Allele Identifier: CA3581399

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 696497
• ClinVar RCV Id: RCV000862881 ; RCV002538917
• dbSNP Id: rs61743702
• ExAC: 5:176831543 C / G
• gnomAD v2: 5-176831543-C-G
• gnomAD v3: 5-177404542-C-G
• gnomAD v4: 5-177404542-C-G
• MyVariant Identifiers: chr5:g.176831543C>G (hg19) ; chr5:g.177404542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404542C>G , CM000667.2:g.177404542C>G	GRCh38
NC_000005.9:g.176831543C>G , CM000667.1:g.176831543C>G	GRCh37
NC_000005.8:g.176764149C>G	NCBI36
NG_007568.1:g.10035G>C , LRG_145:g.10035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*423G>C (F12)	ENSP00000512476.1:n.*423G>C
ENST00000696193.1:c.*1127G>C (F12)	ENSP00000512477.1:n.*1127G>C
ENST00000696194.1:c.*347G>C (F12)	ENSP00000512478.1:n.*347G>C
ENST00000696195.1:n.3560G>C (F12)
ENST00000696200.1:n.860G>C (F12)
ENST00000696201.1:c.757G>C (F12)	ENSP00000512482.1:p.Glu253Gln
ENST00000253496.4:c.757G>C (F12) MANE Select	ENSP00000253496.3:p.Glu253Gln
ENST00000253496.3:c.757G>C (F12)	ENSP00000253496.3:p.Glu253Gln
ENST00000502598.5:c.-45+1016C>G (GRK6)	ENSP00000422873.1:n.-45+1016C>G
ENST00000503736.1:n.173-129G>C (F12)
ENST00000506296.5:c.-60C>G (GRK6)	ENSP00000421055.1:n.-60C>G
NM_000505.3:c.757G>C , LRG_145t1:c.757G>C (F12)	NP_000496.2:p.Glu253Gln
XM_011534461.1:c.757G>C (F12)	XP_011532763.1:p.Glu253Gln
XM_011534462.1:c.421G>C (F12)	XP_011532764.1:p.Glu141Gln
XM_011534462.2:c.421G>C (F12)	XP_011532764.1:p.Glu141Gln
XM_017009773.2:c.1417-7222C>G (SLC34A1)	XP_016865262.1:n.1417-7222C>G
NM_000505.4:c.757G>C (F12) MANE Select	NP_000496.2:p.Glu253Gln