Canonical Allele Identifier: CA362327804

Gene: F12 GRK6 SLC34A1

Linked Data

• ClinVar Variation Id: 2331332
• ClinVar RCV Id: RCV002940255
• dbSNP Id: rs1206904795
• gnomAD v2: 5-176831037-C-A
• gnomAD v3: 5-177404036-C-A
• gnomAD v4: 5-177404036-C-A
• MyVariant Identifiers: chr5:g.176831037C>A (hg19) ; chr5:g.177404036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404036C>A , CM000667.2:g.177404036C>A	GRCh38
NC_000005.9:g.176831037C>A , CM000667.1:g.176831037C>A	GRCh37
NC_000005.8:g.176763643C>A	NCBI36
NG_007568.1:g.10541G>T , LRG_145:g.10541G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*739G>T (F12)	ENSP00000512476.1:n.*739G>T
ENST00000696193.1:c.*1460G>T (F12)	ENSP00000512477.1:n.*1460G>T
ENST00000696194.1:c.*663G>T (F12)	ENSP00000512478.1:n.*663G>T
ENST00000696195.1:n.3876G>T (F12)
ENST00000696200.1:n.1176G>T (F12)
ENST00000696201.1:c.1073G>T (F12)	ENSP00000512482.1:p.Ser358Ile
ENST00000253496.4:c.1073G>T (F12) MANE Select	ENSP00000253496.3:p.Ser358Ile
ENST00000253496.3:c.1073G>T (F12)	ENSP00000253496.3:p.Ser358Ile
ENST00000502598.5:c.-45+510C>A (GRK6)	ENSP00000422873.1:n.-45+510C>A
ENST00000502854.5:n.332G>T (F12)
ENST00000503736.1:n.445G>T (F12)
ENST00000510358.5:n.437G>T (F12)
NM_000505.3:c.1073G>T , LRG_145t1:c.1073G>T (F12)	NP_000496.2:p.Ser358Ile
XM_011534461.1:c.1073G>T (F12)	XP_011532763.1:p.Ser358Ile
XM_011534462.1:c.737G>T (F12)	XP_011532764.1:p.Ser246Ile
XM_011534462.2:c.737G>T (F12)	XP_011532764.1:p.Ser246Ile
XM_017009773.2:c.1416+6962C>A (SLC34A1)	XP_016865262.1:n.1416+6962C>A
NM_000505.4:c.1073G>T (F12) MANE Select	NP_000496.2:p.Ser358Ile