Canonical Allele Identifier: CA362328271

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404231-G-A
• COSMIC: COSM6391012
• MyVariant Identifiers: chr5:g.176831232G>A (hg19) ; chr5:g.177404231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404231G>A , CM000667.2:g.177404231G>A	GRCh38
NC_000005.9:g.176831232G>A , CM000667.1:g.176831232G>A	GRCh37
NC_000005.8:g.176763838G>A	NCBI36
NG_007568.1:g.10346C>T , LRG_145:g.10346C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*649C>T (F12)	ENSP00000512476.1:n.*649C>T
ENST00000696193.1:c.*1353C>T (F12)	ENSP00000512477.1:n.*1353C>T
ENST00000696194.1:c.*573C>T (F12)	ENSP00000512478.1:n.*573C>T
ENST00000696195.1:n.3786C>T (F12)
ENST00000696200.1:n.1086C>T (F12)
ENST00000696201.1:c.983C>T (F12)	ENSP00000512482.1:p.Thr328Met
ENST00000253496.4:c.983C>T (F12) MANE Select	ENSP00000253496.3:p.Thr328Met
ENST00000253496.3:c.983C>T (F12)	ENSP00000253496.3:p.Thr328Met
ENST00000502598.5:c.-45+705G>A (GRK6)	ENSP00000422873.1:n.-45+705G>A
ENST00000502854.5:n.242C>T (F12)
ENST00000503736.1:n.355C>T (F12)
ENST00000510358.5:n.242C>T (F12)
NM_000505.3:c.983C>T , LRG_145t1:c.983C>T (F12)	NP_000496.2:p.Thr328Met
XM_011534461.1:c.983C>T (F12)	XP_011532763.1:p.Thr328Met
XM_011534462.1:c.647C>T (F12)	XP_011532764.1:p.Thr216Met
XM_011534462.2:c.647C>T (F12)	XP_011532764.1:p.Thr216Met
XM_017009773.2:c.1416+7157G>A (SLC34A1)	XP_016865262.1:n.1416+7157G>A
NM_000505.4:c.983C>T (F12) MANE Select	NP_000496.2:p.Thr328Met