Canonical Allele Identifier: CA3581390

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs769787706
• ExAC: 5:176831502 G / A
• gnomAD v2: 5-176831502-G-A
• gnomAD v4: 5-177404501-G-A
• MyVariant Identifiers: chr5:g.176831502G>A (hg19) ; chr5:g.177404501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404501G>A , CM000667.2:g.177404501G>A	GRCh38
NC_000005.9:g.176831502G>A , CM000667.1:g.176831502G>A	GRCh37
NC_000005.8:g.176764108G>A	NCBI36
NG_007568.1:g.10076C>T , LRG_145:g.10076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*464C>T (F12)	ENSP00000512476.1:n.*464C>T
ENST00000696193.1:c.*1168C>T (F12)	ENSP00000512477.1:n.*1168C>T
ENST00000696194.1:c.*388C>T (F12)	ENSP00000512478.1:n.*388C>T
ENST00000696195.1:n.3601C>T (F12)
ENST00000696200.1:n.901C>T (F12)
ENST00000696201.1:c.798C>T (F12)	ENSP00000512482.1:p.Cys266=
ENST00000253496.4:c.798C>T (F12) MANE Select	ENSP00000253496.3:p.Cys266=
ENST00000253496.3:c.798C>T (F12)	ENSP00000253496.3:p.Cys266=
ENST00000502598.5:c.-45+975G>A (GRK6)	ENSP00000422873.1:n.-45+975G>A
ENST00000503736.1:n.173-88C>T (F12)
ENST00000506296.5:c.-101G>A (GRK6)	ENSP00000421055.1:n.-101G>A
NM_000505.3:c.798C>T , LRG_145t1:c.798C>T (F12)	NP_000496.2:p.Cys266=
XM_011534461.1:c.798C>T (F12)	XP_011532763.1:p.Cys266=
XM_011534462.1:c.462C>T (F12)	XP_011532764.1:p.Cys154=
XM_011534462.2:c.462C>T (F12)	XP_011532764.1:p.Cys154=
XM_017009773.2:c.1417-7263G>A (SLC34A1)	XP_016865262.1:n.1417-7263G>A
NM_000505.4:c.798C>T (F12) MANE Select	NP_000496.2:p.Cys266=