Canonical Allele Identifier: CA2676713783

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177406066-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406066A>G , CM000667.2:g.177406066A>G	GRCh38
NC_000005.9:g.176833067A>G , CM000667.1:g.176833067A>G	GRCh37
NC_000005.8:g.176765673A>G	NCBI36
NG_007568.1:g.8511T>C , LRG_145:g.8511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.116-5T>C (F12)	ENSP00000512476.1:n.116-5T>C
ENST00000696193.1:c.*35T>C (F12)	ENSP00000512477.1:n.*35T>C
ENST00000696194.1:c.116-5T>C (F12)	ENSP00000512478.1:n.116-5T>C
ENST00000696195.1:n.2468T>C (F12)
ENST00000696200.1:n.219-5T>C (F12)
ENST00000696201.1:c.116-5T>C (F12)	ENSP00000512482.1:n.116-5T>C
ENST00000253496.4:c.116-5T>C (F12) MANE Select	ENSP00000253496.3:n.116-5T>C
ENST00000253496.3:c.116-5T>C (F12)	ENSP00000253496.3:n.116-5T>C
ENST00000502598.5:c.-45+2540A>G (GRK6)	ENSP00000422873.1:n.-45+2540A>G
ENST00000506296.5:c.-45+1509A>G (GRK6)	ENSP00000421055.1:n.-45+1509A>G
NM_000505.3:c.116-5T>C , LRG_145t1:c.116-5T>C (F12)	NP_000496.2:n.116-5T>C
XM_011534461.1:c.116-5T>C (F12)	XP_011532763.1:n.116-5T>C
XM_017009773.2:c.1417-5698A>G (SLC34A1)	XP_016865262.1:n.1417-5698A>G
NM_000505.4:c.116-5T>C (F12) MANE Select	NP_000496.2:n.116-5T>C