Canonical Allele Identifier: CA564899935

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1490781941
• gnomAD v2: 5-176831164-C-T
• MyVariant Identifiers: chr5:g.176831164C>T (hg19) ; chr5:g.177404163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404163C>T , CM000667.2:g.177404163C>T	GRCh38
NC_000005.9:g.176831164C>T , CM000667.1:g.176831164C>T	GRCh37
NC_000005.8:g.176763770C>T	NCBI36
NG_007568.1:g.10414G>A , LRG_145:g.10414G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*684+33G>A (F12)	ENSP00000512476.1:n.*684+33G>A
ENST00000696193.1:c.*1388+33G>A (F12)	ENSP00000512477.1:n.*1388+33G>A
ENST00000696194.1:c.*608+33G>A (F12)	ENSP00000512478.1:n.*608+33G>A
ENST00000696195.1:n.3821+33G>A (F12)
ENST00000696200.1:n.1121+33G>A (F12)
ENST00000696201.1:c.1018+33G>A (F12)	ENSP00000512482.1:n.1018+33G>A
ENST00000253496.4:c.1018+33G>A (F12) MANE Select	ENSP00000253496.3:n.1018+33G>A
ENST00000253496.3:c.1018+33G>A (F12)	ENSP00000253496.3:n.1018+33G>A
ENST00000502598.5:c.-45+637C>T (GRK6)	ENSP00000422873.1:n.-45+637C>T
ENST00000502854.5:n.277+33G>A (F12)
ENST00000503736.1:n.390+33G>A (F12)
ENST00000510358.5:n.310G>A (F12)
NM_000505.3:c.1018+33G>A , LRG_145t1:c.1018+33G>A (F12)	NP_000496.2:n.1018+33G>A
XM_011534461.1:c.1018+33G>A (F12)	XP_011532763.1:n.1018+33G>A
XM_011534462.1:c.682+33G>A (F12)	XP_011532764.1:n.682+33G>A
XM_011534462.2:c.682+33G>A (F12)	XP_011532764.1:n.682+33G>A
XM_017009773.2:c.1416+7089C>T (SLC34A1)	XP_016865262.1:n.1416+7089C>T
NM_000505.4:c.1018+33G>A (F12) MANE Select	NP_000496.2:n.1018+33G>A