Canonical Allele Identifier: CA808072957

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1447736779
• MyVariant Identifiers: chr5:g.176833114G>A (hg19) ; chr5:g.177406113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177406113G>A , CM000667.2:g.177406113G>A	GRCh38
NC_000005.9:g.176833114G>A , CM000667.1:g.176833114G>A	GRCh37
NC_000005.8:g.176765720G>A	NCBI36
NG_007568.1:g.8464C>T , LRG_145:g.8464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.116-52C>T (F12)	ENSP00000512476.1:n.116-52C>T
ENST00000696193.1:c.132C>T (F12)	ENSP00000512477.1:p.Cys44=
ENST00000696194.1:c.116-52C>T (F12)	ENSP00000512478.1:n.116-52C>T
ENST00000696195.1:n.2421C>T (F12)
ENST00000696200.1:n.219-52C>T (F12)
ENST00000696201.1:c.116-52C>T (F12)	ENSP00000512482.1:n.116-52C>T
ENST00000253496.4:c.116-52C>T (F12) MANE Select	ENSP00000253496.3:n.116-52C>T
ENST00000253496.3:c.116-52C>T (F12)	ENSP00000253496.3:n.116-52C>T
ENST00000502598.5:c.-45+2587G>A (GRK6)	ENSP00000422873.1:n.-45+2587G>A
ENST00000506296.5:c.-45+1556G>A (GRK6)	ENSP00000421055.1:n.-45+1556G>A
NM_000505.3:c.116-52C>T , LRG_145t1:c.116-52C>T (F12)	NP_000496.2:n.116-52C>T
XM_011534461.1:c.116-52C>T (F12)	XP_011532763.1:n.116-52C>T
XM_017009773.2:c.1417-5651G>A (SLC34A1)	XP_016865262.1:n.1417-5651G>A
NM_000505.4:c.116-52C>T (F12) MANE Select	NP_000496.2:n.116-52C>T