Canonical Allele Identifier: CA362327843

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831043G>A (hg19) ; chr5:g.177404042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404042G>A , CM000667.2:g.177404042G>A	GRCh38
NC_000005.9:g.176831043G>A , CM000667.1:g.176831043G>A	GRCh37
NC_000005.8:g.176763649G>A	NCBI36
NG_007568.1:g.10535C>T , LRG_145:g.10535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*733C>T (F12)	ENSP00000512476.1:n.*733C>T
ENST00000696193.1:c.*1454C>T (F12)	ENSP00000512477.1:n.*1454C>T
ENST00000696194.1:c.*657C>T (F12)	ENSP00000512478.1:n.*657C>T
ENST00000696195.1:n.3870C>T (F12)
ENST00000696200.1:n.1170C>T (F12)
ENST00000696201.1:c.1067C>T (F12)	ENSP00000512482.1:p.Pro356Leu
ENST00000253496.4:c.1067C>T (F12) MANE Select	ENSP00000253496.3:p.Pro356Leu
ENST00000253496.3:c.1067C>T (F12)	ENSP00000253496.3:p.Pro356Leu
ENST00000502598.5:c.-45+516G>A (GRK6)	ENSP00000422873.1:n.-45+516G>A
ENST00000502854.5:n.326C>T (F12)
ENST00000503736.1:n.439C>T (F12)
ENST00000510358.5:n.431C>T (F12)
NM_000505.3:c.1067C>T , LRG_145t1:c.1067C>T (F12)	NP_000496.2:p.Pro356Leu
XM_011534461.1:c.1067C>T (F12)	XP_011532763.1:p.Pro356Leu
XM_011534462.1:c.731C>T (F12)	XP_011532764.1:p.Pro244Leu
XM_011534462.2:c.731C>T (F12)	XP_011532764.1:p.Pro244Leu
XM_017009773.2:c.1416+6968G>A (SLC34A1)	XP_016865262.1:n.1416+6968G>A
NM_000505.4:c.1067C>T (F12) MANE Select	NP_000496.2:p.Pro356Leu