Canonical Allele Identifier: CA3581344

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 1510718
• ClinVar RCV Id: RCV002014074 ; RCV002548168
• dbSNP Id: rs139263608
• ExAC: 5:176831292 G / T
• gnomAD v2: 5-176831292-G-T
• gnomAD v3: 5-177404291-G-T
• gnomAD v4: 5-177404291-G-T
• MyVariant Identifiers: chr5:g.176831292G>T (hg19) ; chr5:g.177404291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404291G>T , CM000667.2:g.177404291G>T	GRCh38
NC_000005.9:g.176831292G>T , CM000667.1:g.176831292G>T	GRCh37
NC_000005.8:g.176763898G>T	NCBI36
NG_007568.1:g.10286C>A , LRG_145:g.10286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*589C>A (F12)	ENSP00000512476.1:n.*589C>A
ENST00000696193.1:c.*1293C>A (F12)	ENSP00000512477.1:n.*1293C>A
ENST00000696194.1:c.*513C>A (F12)	ENSP00000512478.1:n.*513C>A
ENST00000696195.1:n.3726C>A (F12)
ENST00000696200.1:n.1026C>A (F12)
ENST00000696201.1:c.923C>A (F12)	ENSP00000512482.1:p.Ser308Tyr
ENST00000253496.4:c.923C>A (F12) MANE Select	ENSP00000253496.3:p.Ser308Tyr
ENST00000253496.3:c.923C>A (F12)	ENSP00000253496.3:p.Ser308Tyr
ENST00000502598.5:c.-45+765G>T (GRK6)	ENSP00000422873.1:n.-45+765G>T
ENST00000502854.5:n.182C>A (F12)
ENST00000503736.1:n.295C>A (F12)
ENST00000510358.5:n.182C>A (F12)
NM_000505.3:c.923C>A , LRG_145t1:c.923C>A (F12)	NP_000496.2:p.Ser308Tyr
XM_011534461.1:c.923C>A (F12)	XP_011532763.1:p.Ser308Tyr
XM_011534462.1:c.587C>A (F12)	XP_011532764.1:p.Ser196Tyr
XM_011534462.2:c.587C>A (F12)	XP_011532764.1:p.Ser196Tyr
XM_017009773.2:c.1416+7217G>T (SLC34A1)	XP_016865262.1:n.1416+7217G>T
NM_000505.4:c.923C>A (F12) MANE Select	NP_000496.2:p.Ser308Tyr