Canonical Allele Identifier: CA1084818737

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1763219087
• gnomAD v3: 5-177404100-A-G
• gnomAD v4: 5-177404100-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404100A>G , CM000667.2:g.177404100A>G	GRCh38
NC_000005.9:g.176831101A>G , CM000667.1:g.176831101A>G	GRCh37
NC_000005.8:g.176763707A>G	NCBI36
NG_007568.1:g.10477T>C , LRG_145:g.10477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*685-10T>C (F12)	ENSP00000512476.1:n.*685-10T>C
ENST00000696193.1:c.*1396T>C (F12)	ENSP00000512477.1:n.*1396T>C
ENST00000696194.1:c.*609-10T>C (F12)	ENSP00000512478.1:n.*609-10T>C
ENST00000696195.1:n.3822-10T>C (F12)
ENST00000696200.1:n.1122-10T>C (F12)
ENST00000696201.1:c.1019-10T>C (F12)	ENSP00000512482.1:n.1019-10T>C
ENST00000253496.4:c.1019-10T>C (F12) MANE Select	ENSP00000253496.3:n.1019-10T>C
ENST00000253496.3:c.1019-10T>C (F12)	ENSP00000253496.3:n.1019-10T>C
ENST00000502598.5:c.-45+574A>G (GRK6)	ENSP00000422873.1:n.-45+574A>G
ENST00000502854.5:n.278-10T>C (F12)
ENST00000503736.1:n.391-10T>C (F12)
ENST00000510358.5:n.373T>C (F12)
NM_000505.3:c.1019-10T>C , LRG_145t1:c.1019-10T>C (F12)	NP_000496.2:n.1019-10T>C
XM_011534461.1:c.1019-10T>C (F12)	XP_011532763.1:n.1019-10T>C
XM_011534462.1:c.683-10T>C (F12)	XP_011532764.1:n.683-10T>C
XM_011534462.2:c.683-10T>C (F12)	XP_011532764.1:n.683-10T>C
XM_017009773.2:c.1416+7026A>G (SLC34A1)	XP_016865262.1:n.1416+7026A>G
NM_000505.4:c.1019-10T>C (F12) MANE Select	NP_000496.2:n.1019-10T>C