Canonical Allele Identifier: CA447965033

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs767467911
• gnomAD v2: 5-176831231-C-T
• gnomAD v4: 5-177404230-C-T
• COSMIC: COSM6103291
• MyVariant Identifiers: chr5:g.176831231C>T (hg19) ; chr5:g.177404230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404230C>T , CM000667.2:g.177404230C>T	GRCh38
NC_000005.9:g.176831231C>T , CM000667.1:g.176831231C>T	GRCh37
NC_000005.8:g.176763837C>T	NCBI36
NG_007568.1:g.10347G>A , LRG_145:g.10347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*650G>A (F12)	ENSP00000512476.1:n.*650G>A
ENST00000696193.1:c.*1354G>A (F12)	ENSP00000512477.1:n.*1354G>A
ENST00000696194.1:c.*574G>A (F12)	ENSP00000512478.1:n.*574G>A
ENST00000696195.1:n.3787G>A (F12)
ENST00000696200.1:n.1087G>A (F12)
ENST00000696201.1:c.984G>A (F12)	ENSP00000512482.1:p.Thr328=
ENST00000253496.4:c.984G>A (F12) MANE Select	ENSP00000253496.3:p.Thr328=
ENST00000253496.3:c.984G>A (F12)	ENSP00000253496.3:p.Thr328=
ENST00000502598.5:c.-45+704C>T (GRK6)	ENSP00000422873.1:n.-45+704C>T
ENST00000502854.5:n.243G>A (F12)
ENST00000503736.1:n.356G>A (F12)
ENST00000510358.5:n.243G>A (F12)
NM_000505.3:c.984G>A , LRG_145t1:c.984G>A (F12)	NP_000496.2:p.Thr328=
XM_011534461.1:c.984G>A (F12)	XP_011532763.1:p.Thr328=
XM_011534462.1:c.648G>A (F12)	XP_011532764.1:p.Thr216=
XM_011534462.2:c.648G>A (F12)	XP_011532764.1:p.Thr216=
XM_017009773.2:c.1416+7156C>T (SLC34A1)	XP_016865262.1:n.1416+7156C>T
NM_000505.4:c.984G>A (F12) MANE Select	NP_000496.2:p.Thr328=