Canonical Allele Identifier: CA2676714680

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177403746-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403746A>G , CM000667.2:g.177403746A>G	GRCh38
NC_000005.9:g.176830747A>G , CM000667.1:g.176830747A>G	GRCh37
NC_000005.8:g.176763353A>G	NCBI36
NG_007568.1:g.10831T>C , LRG_145:g.10831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*916+113T>C (F12)	ENSP00000512476.1:n.*916+113T>C
ENST00000696193.1:c.*1637+113T>C (F12)	ENSP00000512477.1:n.*1637+113T>C
ENST00000696194.1:c.*840+113T>C (F12)	ENSP00000512478.1:n.*840+113T>C
ENST00000696195.1:n.4053+113T>C (F12)
ENST00000696200.1:n.1466T>C (F12)
ENST00000696201.1:c.1250+113T>C (F12)	ENSP00000512482.1:n.1250+113T>C
ENST00000253496.4:c.1250+113T>C (F12) MANE Select	ENSP00000253496.3:n.1250+113T>C
ENST00000253496.3:c.1250+113T>C (F12)	ENSP00000253496.3:n.1250+113T>C
ENST00000502598.5:c.-45+220A>G (GRK6)	ENSP00000422873.1:n.-45+220A>G
ENST00000502854.5:n.622T>C (F12)
ENST00000503736.1:n.622+113T>C (F12)
ENST00000504406.5:n.5T>C (F12)
ENST00000510358.5:n.727T>C (F12)
NM_000505.3:c.1250+113T>C , LRG_145t1:c.1250+113T>C (F12)	NP_000496.2:n.1250+113T>C
XM_011534461.1:c.1250+113T>C (F12)	XP_011532763.1:n.1250+113T>C
XM_011534462.1:c.914+113T>C (F12)	XP_011532764.1:n.914+113T>C
XM_011534462.2:c.914+113T>C (F12)	XP_011532764.1:n.914+113T>C
XM_017009773.2:c.1416+6672A>G (SLC34A1)	XP_016865262.1:n.1416+6672A>G
NM_000505.4:c.1250+113T>C (F12) MANE Select	NP_000496.2:n.1250+113T>C