Canonical Allele Identifier: CA362328678

Gene: F12 GRK6 SLC34A1

Linked Data

• COSMIC: COSM3994218
• MyVariant Identifiers: chr5:g.176831350A>G (hg19) ; chr5:g.177404349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404349A>G , CM000667.2:g.177404349A>G	GRCh38
NC_000005.9:g.176831350A>G , CM000667.1:g.176831350A>G	GRCh37
NC_000005.8:g.176763956A>G	NCBI36
NG_007568.1:g.10228T>C , LRG_145:g.10228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*531T>C (F12)	ENSP00000512476.1:n.*531T>C
ENST00000696193.1:c.*1235T>C (F12)	ENSP00000512477.1:n.*1235T>C
ENST00000696194.1:c.*455T>C (F12)	ENSP00000512478.1:n.*455T>C
ENST00000696195.1:n.3668T>C (F12)
ENST00000696200.1:n.968T>C (F12)
ENST00000696201.1:c.865T>C (F12)	ENSP00000512482.1:p.Tyr289His
ENST00000253496.4:c.865T>C (F12) MANE Select	ENSP00000253496.3:p.Tyr289His
ENST00000253496.3:c.865T>C (F12)	ENSP00000253496.3:p.Tyr289His
ENST00000502598.5:c.-45+823A>G (GRK6)	ENSP00000422873.1:n.-45+823A>G
ENST00000502854.5:n.124T>C (F12)
ENST00000503736.1:n.237T>C (F12)
ENST00000510358.5:n.124T>C (F12)
NM_000505.3:c.865T>C , LRG_145t1:c.865T>C (F12)	NP_000496.2:p.Tyr289His
XM_011534461.1:c.865T>C (F12)	XP_011532763.1:p.Tyr289His
XM_011534462.1:c.529T>C (F12)	XP_011532764.1:p.Tyr177His
XM_011534462.2:c.529T>C (F12)	XP_011532764.1:p.Tyr177His
XM_017009773.2:c.1416+7275A>G (SLC34A1)	XP_016865262.1:n.1416+7275A>G
NM_000505.4:c.865T>C (F12) MANE Select	NP_000496.2:p.Tyr289His