Canonical Allele Identifier: CA3581266

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs753506439
• ExAC: 5:176831019 C / A
• gnomAD v2: 5-176831019-C-A
• gnomAD v4: 5-177404018-C-A
• MyVariant Identifiers: chr5:g.176831019C>A (hg19) ; chr5:g.177404018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404018C>A , CM000667.2:g.177404018C>A	GRCh38
NC_000005.9:g.176831019C>A , CM000667.1:g.176831019C>A	GRCh37
NC_000005.8:g.176763625C>A	NCBI36
NG_007568.1:g.10559G>T , LRG_145:g.10559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*757G>T (F12)	ENSP00000512476.1:n.*757G>T
ENST00000696193.1:c.*1478G>T (F12)	ENSP00000512477.1:n.*1478G>T
ENST00000696194.1:c.*681G>T (F12)	ENSP00000512478.1:n.*681G>T
ENST00000696195.1:n.3894G>T (F12)
ENST00000696200.1:n.1194G>T (F12)
ENST00000696201.1:c.1091G>T (F12)	ENSP00000512482.1:p.Arg364Leu
ENST00000253496.4:c.1091G>T (F12) MANE Select	ENSP00000253496.3:p.Arg364Leu
ENST00000253496.3:c.1091G>T (F12)	ENSP00000253496.3:p.Arg364Leu
ENST00000502598.5:c.-45+492C>A (GRK6)	ENSP00000422873.1:n.-45+492C>A
ENST00000502854.5:n.350G>T (F12)
ENST00000503736.1:n.463G>T (F12)
ENST00000510358.5:n.455G>T (F12)
NM_000505.3:c.1091G>T , LRG_145t1:c.1091G>T (F12)	NP_000496.2:p.Arg364Leu
XM_011534461.1:c.1091G>T (F12)	XP_011532763.1:p.Arg364Leu
XM_011534462.1:c.755G>T (F12)	XP_011532764.1:p.Arg252Leu
XM_011534462.2:c.755G>T (F12)	XP_011532764.1:p.Arg252Leu
XM_017009773.2:c.1416+6944C>A (SLC34A1)	XP_016865262.1:n.1416+6944C>A
NM_000505.4:c.1091G>T (F12) MANE Select	NP_000496.2:p.Arg364Leu