Canonical Allele Identifier: CA362328834

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831392G>C (hg19) ; chr5:g.177404391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404391G>C , CM000667.2:g.177404391G>C	GRCh38
NC_000005.9:g.176831392G>C , CM000667.1:g.176831392G>C	GRCh37
NC_000005.8:g.176763998G>C	NCBI36
NG_007568.1:g.10186C>G , LRG_145:g.10186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*489C>G (F12)	ENSP00000512476.1:n.*489C>G
ENST00000696193.1:c.*1193C>G (F12)	ENSP00000512477.1:n.*1193C>G
ENST00000696194.1:c.*413C>G (F12)	ENSP00000512478.1:n.*413C>G
ENST00000696195.1:n.3626C>G (F12)
ENST00000696200.1:n.926C>G (F12)
ENST00000696201.1:c.823C>G (F12)	ENSP00000512482.1:p.Pro275Ala
ENST00000253496.4:c.823C>G (F12) MANE Select	ENSP00000253496.3:p.Pro275Ala
ENST00000253496.3:c.823C>G (F12)	ENSP00000253496.3:p.Pro275Ala
ENST00000502598.5:c.-45+865G>C (GRK6)	ENSP00000422873.1:n.-45+865G>C
ENST00000502854.5:n.82C>G (F12)
ENST00000503736.1:n.195C>G (F12)
ENST00000510358.5:n.82C>G (F12)
NM_000505.3:c.823C>G , LRG_145t1:c.823C>G (F12)	NP_000496.2:p.Pro275Ala
XM_011534461.1:c.823C>G (F12)	XP_011532763.1:p.Pro275Ala
XM_011534462.1:c.487C>G (F12)	XP_011532764.1:p.Pro163Ala
XM_011534462.2:c.487C>G (F12)	XP_011532764.1:p.Pro163Ala
XM_017009773.2:c.1416+7317G>C (SLC34A1)	XP_016865262.1:n.1416+7317G>C
NM_000505.4:c.823C>G (F12) MANE Select	NP_000496.2:p.Pro275Ala