Canonical Allele Identifier: CA3581346

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 2723904
• ClinVar RCV Id: RCV003561523 ; RCV004555673
• dbSNP Id: rs78187030
• ExAC: 5:176831293 A / T
• gnomAD v2: 5-176831293-A-T
• gnomAD v3: 5-177404292-A-T
• gnomAD v4: 5-177404292-A-T
• MyVariant Identifiers: chr5:g.176831293A>T (hg19) ; chr5:g.177404292A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404292A>T , CM000667.2:g.177404292A>T	GRCh38
NC_000005.9:g.176831293A>T , CM000667.1:g.176831293A>T	GRCh37
NC_000005.8:g.176763899A>T	NCBI36
NG_007568.1:g.10285T>A , LRG_145:g.10285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*588T>A (F12)	ENSP00000512476.1:n.*588T>A
ENST00000696193.1:c.*1292T>A (F12)	ENSP00000512477.1:n.*1292T>A
ENST00000696194.1:c.*512T>A (F12)	ENSP00000512478.1:n.*512T>A
ENST00000696195.1:n.3725T>A (F12)
ENST00000696200.1:n.1025T>A (F12)
ENST00000696201.1:c.922T>A (F12)	ENSP00000512482.1:p.Ser308Thr
ENST00000253496.4:c.922T>A (F12) MANE Select	ENSP00000253496.3:p.Ser308Thr
ENST00000253496.3:c.922T>A (F12)	ENSP00000253496.3:p.Ser308Thr
ENST00000502598.5:c.-45+766A>T (GRK6)	ENSP00000422873.1:n.-45+766A>T
ENST00000502854.5:n.181T>A (F12)
ENST00000503736.1:n.294T>A (F12)
ENST00000510358.5:n.181T>A (F12)
NM_000505.3:c.922T>A , LRG_145t1:c.922T>A (F12)	NP_000496.2:p.Ser308Thr
XM_011534461.1:c.922T>A (F12)	XP_011532763.1:p.Ser308Thr
XM_011534462.1:c.586T>A (F12)	XP_011532764.1:p.Ser196Thr
XM_011534462.2:c.586T>A (F12)	XP_011532764.1:p.Ser196Thr
XM_017009773.2:c.1416+7218A>T (SLC34A1)	XP_016865262.1:n.1416+7218A>T
NM_000505.4:c.922T>A (F12) MANE Select	NP_000496.2:p.Ser308Thr