Canonical Allele Identifier: CA3581357

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs751800442
• ExAC: 5:176831327 C / T
• gnomAD v2: 5-176831327-C-T
• gnomAD v4: 5-177404326-C-T
• COSMIC: COSM1436312
• MyVariant Identifiers: chr5:g.176831327C>T (hg19) ; chr5:g.177404326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404326C>T , CM000667.2:g.177404326C>T	GRCh38
NC_000005.9:g.176831327C>T , CM000667.1:g.176831327C>T	GRCh37
NC_000005.8:g.176763933C>T	NCBI36
NG_007568.1:g.10251G>A , LRG_145:g.10251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*554G>A (F12)	ENSP00000512476.1:n.*554G>A
ENST00000696193.1:c.*1258G>A (F12)	ENSP00000512477.1:n.*1258G>A
ENST00000696194.1:c.*478G>A (F12)	ENSP00000512478.1:n.*478G>A
ENST00000696195.1:n.3691G>A (F12)
ENST00000696200.1:n.991G>A (F12)
ENST00000696201.1:c.888G>A (F12)	ENSP00000512482.1:p.Gln296=
ENST00000253496.4:c.888G>A (F12) MANE Select	ENSP00000253496.3:p.Gln296=
ENST00000253496.3:c.888G>A (F12)	ENSP00000253496.3:p.Gln296=
ENST00000502598.5:c.-45+800C>T (GRK6)	ENSP00000422873.1:n.-45+800C>T
ENST00000502854.5:n.147G>A (F12)
ENST00000503736.1:n.260G>A (F12)
ENST00000510358.5:n.147G>A (F12)
NM_000505.3:c.888G>A , LRG_145t1:c.888G>A (F12)	NP_000496.2:p.Gln296=
XM_011534461.1:c.888G>A (F12)	XP_011532763.1:p.Gln296=
XM_011534462.1:c.552G>A (F12)	XP_011532764.1:p.Gln184=
XM_011534462.2:c.552G>A (F12)	XP_011532764.1:p.Gln184=
XM_017009773.2:c.1416+7252C>T (SLC34A1)	XP_016865262.1:n.1416+7252C>T
NM_000505.4:c.888G>A (F12) MANE Select	NP_000496.2:p.Gln296=