Canonical Allele Identifier: CA2984999139

Gene: F12 GRK6 SLC34A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406101T>A , CM000667.2:g.177406101T>A	GRCh38
NC_000005.9:g.176833102T>A , CM000667.1:g.176833102T>A	GRCh37
NC_000005.8:g.176765708T>A	NCBI36
NG_007568.1:g.8476A>T , LRG_145:g.8476A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.116-40A>T (F12)	ENSP00000512476.1:n.116-40A>T
ENST00000696193.1:c.144A>T (F12)	ENSP00000512477.1:p.Ter48Cys
ENST00000696194.1:c.116-40A>T (F12)	ENSP00000512478.1:n.116-40A>T
ENST00000696195.1:n.2433A>T (F12)
ENST00000696200.1:n.219-40A>T (F12)
ENST00000696201.1:c.116-40A>T (F12)	ENSP00000512482.1:n.116-40A>T
ENST00000253496.4:c.116-40A>T (F12) MANE Select	ENSP00000253496.3:n.116-40A>T
ENST00000253496.3:c.116-40A>T (F12)	ENSP00000253496.3:n.116-40A>T
ENST00000502598.5:c.-45+2575T>A (GRK6)	ENSP00000422873.1:n.-45+2575T>A
ENST00000506296.5:c.-45+1544T>A (GRK6)	ENSP00000421055.1:n.-45+1544T>A
NM_000505.3:c.116-40A>T , LRG_145t1:c.116-40A>T (F12)	NP_000496.2:n.116-40A>T
XM_011534461.1:c.116-40A>T (F12)	XP_011532763.1:n.116-40A>T
XM_017009773.2:c.1417-5663T>A (SLC34A1)	XP_016865262.1:n.1417-5663T>A
NM_000505.4:c.116-40A>T (F12) MANE Select	NP_000496.2:n.116-40A>T