Canonical Allele Identifier: CA2578497017

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404670-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404670G>A , CM000667.2:g.177404670G>A	GRCh38
NC_000005.9:g.176831671G>A , CM000667.1:g.176831671G>A	GRCh37
NC_000005.8:g.176764277G>A	NCBI36
NG_007568.1:g.9907C>T , LRG_145:g.9907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*301-6C>T (F12)	ENSP00000512476.1:n.*301-6C>T
ENST00000696193.1:c.*999C>T (F12)	ENSP00000512477.1:n.*999C>T
ENST00000696194.1:c.*225-6C>T (F12)	ENSP00000512478.1:n.*225-6C>T
ENST00000696195.1:n.3432C>T (F12)
ENST00000696200.1:n.738-6C>T (F12)
ENST00000696201.1:c.635-6C>T (F12)	ENSP00000512482.1:n.635-6C>T
ENST00000253496.4:c.635-6C>T (F12) MANE Select	ENSP00000253496.3:n.635-6C>T
ENST00000253496.3:c.635-6C>T (F12)	ENSP00000253496.3:n.635-6C>T
ENST00000502598.5:c.-45+1144G>A (GRK6)	ENSP00000422873.1:n.-45+1144G>A
ENST00000503736.1:n.172+140C>T (F12)
ENST00000506296.5:c.-45+113G>A (GRK6)	ENSP00000421055.1:n.-45+113G>A
NM_000505.3:c.635-6C>T , LRG_145t1:c.635-6C>T (F12)	NP_000496.2:n.635-6C>T
XM_011534461.1:c.635-6C>T (F12)	XP_011532763.1:n.635-6C>T
XM_011534462.1:c.299-6C>T (F12)	XP_011532764.1:n.299-6C>T
XM_011534462.2:c.299-6C>T (F12)	XP_011532764.1:n.299-6C>T
XM_017009773.2:c.1417-7094G>A (SLC34A1)	XP_016865262.1:n.1417-7094G>A
NM_000505.4:c.635-6C>T (F12) MANE Select	NP_000496.2:n.635-6C>T