Canonical Allele Identifier: CA2676714661

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177403734-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403734A>C , CM000667.2:g.177403734A>C	GRCh38
NC_000005.9:g.176830735A>C , CM000667.1:g.176830735A>C	GRCh37
NC_000005.8:g.176763341A>C	NCBI36
NG_007568.1:g.10843T>G , LRG_145:g.10843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-117T>G (F12)	ENSP00000512476.1:n.*917-117T>G
ENST00000696193.1:c.*1638-117T>G (F12)	ENSP00000512477.1:n.*1638-117T>G
ENST00000696194.1:c.*841-117T>G (F12)	ENSP00000512478.1:n.*841-117T>G
ENST00000696195.1:n.4054-117T>G (F12)
ENST00000696200.1:n.1478T>G (F12)
ENST00000696201.1:c.1251-117T>G (F12)	ENSP00000512482.1:n.1251-117T>G
ENST00000253496.4:c.1251-117T>G (F12) MANE Select	ENSP00000253496.3:n.1251-117T>G
ENST00000253496.3:c.1251-117T>G (F12)	ENSP00000253496.3:n.1251-117T>G
ENST00000502598.5:c.-45+208A>C (GRK6)	ENSP00000422873.1:n.-45+208A>C
ENST00000502854.5:n.634T>G (F12)
ENST00000503736.1:n.623-117T>G (F12)
ENST00000504406.5:n.17T>G (F12)
ENST00000510358.5:n.739T>G (F12)
NM_000505.3:c.1251-117T>G , LRG_145t1:c.1251-117T>G (F12)	NP_000496.2:n.1251-117T>G
XM_011534461.1:c.1251-117T>G (F12)	XP_011532763.1:n.1251-117T>G
XM_011534462.1:c.915-117T>G (F12)	XP_011532764.1:n.915-117T>G
XM_011534462.2:c.915-117T>G (F12)	XP_011532764.1:n.915-117T>G
XM_017009773.2:c.1416+6660A>C (SLC34A1)	XP_016865262.1:n.1416+6660A>C
NM_000505.4:c.1251-117T>G (F12) MANE Select	NP_000496.2:n.1251-117T>G