Canonical Allele Identifier: CA2523672462

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177409542G>T , CM000667.2:g.177409542G>T	GRCh38
NC_000005.9:g.176836543G>T , CM000667.1:g.176836543G>T	GRCh37
NC_000005.8:g.176769149G>T	NCBI36
NG_007568.1:g.5035C>A , LRG_145:g.5035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.-15C>A (F12)	ENSP00000512476.1:n.-15C>A
ENST00000696193.1:c.-15C>A (F12)	ENSP00000512477.1:n.-15C>A
ENST00000696194.1:c.-15C>A (F12)	ENSP00000512478.1:n.-15C>A
ENST00000696195.1:n.34C>A (F12)
ENST00000696200.1:n.89C>A (F12)
ENST00000696201.1:c.-15C>A (F12)	ENSP00000512482.1:n.-15C>A
ENST00000253496.4:c.-15C>A (F12) MANE Select	ENSP00000253496.3:n.-15C>A
ENST00000253496.3:c.-15C>A (F12)	ENSP00000253496.3:n.-15C>A
ENST00000502598.5:c.-45+6016G>T (GRK6)	ENSP00000422873.1:n.-45+6016G>T
ENST00000506296.5:c.-45+4985G>T (GRK6)	ENSP00000421055.1:n.-45+4985G>T
NM_000505.3:c.-15C>A , LRG_145t1:c.-15C>A (F12)	NP_000496.2:n.-15C>A
XM_011534461.1:c.-15C>A (F12)	XP_011532763.1:n.-15C>A
XM_017009773.2:c.1417-2222G>T (SLC34A1)	XP_016865262.1:n.1417-2222G>T
NM_000505.4:c.-15C>A (F12) MANE Select	NP_000496.2:n.-15C>A