Canonical Allele Identifier: CA2676714480

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177403656-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403656T>G , CM000667.2:g.177403656T>G	GRCh38
NC_000005.9:g.176830657T>G , CM000667.1:g.176830657T>G	GRCh37
NC_000005.8:g.176763263T>G	NCBI36
NG_007568.1:g.10921A>C , LRG_145:g.10921A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*917-39A>C (F12)	ENSP00000512476.1:n.*917-39A>C
ENST00000696193.1:c.*1638-39A>C (F12)	ENSP00000512477.1:n.*1638-39A>C
ENST00000696194.1:c.*841-39A>C (F12)	ENSP00000512478.1:n.*841-39A>C
ENST00000696195.1:n.4054-39A>C (F12)
ENST00000696200.1:n.1556A>C (F12)
ENST00000696201.1:c.1251-39A>C (F12)	ENSP00000512482.1:n.1251-39A>C
ENST00000253496.4:c.1251-39A>C (F12) MANE Select	ENSP00000253496.3:n.1251-39A>C
ENST00000253496.3:c.1251-39A>C (F12)	ENSP00000253496.3:n.1251-39A>C
ENST00000502598.5:c.-45+130T>G (GRK6)	ENSP00000422873.1:n.-45+130T>G
ENST00000502854.5:n.712A>C (F12)
ENST00000503736.1:n.623-39A>C (F12)
ENST00000504406.5:n.95A>C (F12)
ENST00000510358.5:n.817A>C (F12)
NM_000505.3:c.1251-39A>C , LRG_145t1:c.1251-39A>C (F12)	NP_000496.2:n.1251-39A>C
XM_011534461.1:c.1251-39A>C (F12)	XP_011532763.1:n.1251-39A>C
XM_011534462.1:c.915-39A>C (F12)	XP_011532764.1:n.915-39A>C
XM_011534462.2:c.915-39A>C (F12)	XP_011532764.1:n.915-39A>C
XM_017009773.2:c.1416+6582T>G (SLC34A1)	XP_016865262.1:n.1416+6582T>G
NM_000505.4:c.1251-39A>C (F12) MANE Select	NP_000496.2:n.1251-39A>C