Canonical Allele Identifier: CA362329478

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1335980719
• gnomAD v3: 5-177404649-C-A
• gnomAD v4: 5-177404649-C-A
• MyVariant Identifiers: chr5:g.176831650C>A (hg19) ; chr5:g.177404649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404649C>A , CM000667.2:g.177404649C>A	GRCh38
NC_000005.9:g.176831650C>A , CM000667.1:g.176831650C>A	GRCh37
NC_000005.8:g.176764256C>A	NCBI36
NG_007568.1:g.9928G>T , LRG_145:g.9928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*316G>T (F12)	ENSP00000512476.1:n.*316G>T
ENST00000696193.1:c.*1020G>T (F12)	ENSP00000512477.1:n.*1020G>T
ENST00000696194.1:c.*240G>T (F12)	ENSP00000512478.1:n.*240G>T
ENST00000696195.1:n.3453G>T (F12)
ENST00000696200.1:n.753G>T (F12)
ENST00000696201.1:c.650G>T (F12)	ENSP00000512482.1:p.Cys217Phe
ENST00000253496.4:c.650G>T (F12) MANE Select	ENSP00000253496.3:p.Cys217Phe
ENST00000253496.3:c.650G>T (F12)	ENSP00000253496.3:p.Cys217Phe
ENST00000502598.5:c.-45+1123C>A (GRK6)	ENSP00000422873.1:n.-45+1123C>A
ENST00000503736.1:n.172+161G>T (F12)
ENST00000506296.5:c.-45+92C>A (GRK6)	ENSP00000421055.1:n.-45+92C>A
NM_000505.3:c.650G>T , LRG_145t1:c.650G>T (F12)	NP_000496.2:p.Cys217Phe
XM_011534461.1:c.650G>T (F12)	XP_011532763.1:p.Cys217Phe
XM_011534462.1:c.314G>T (F12)	XP_011532764.1:p.Cys105Phe
XM_011534462.2:c.314G>T (F12)	XP_011532764.1:p.Cys105Phe
XM_017009773.2:c.1417-7115C>A (SLC34A1)	XP_016865262.1:n.1417-7115C>A
NM_000505.4:c.650G>T (F12) MANE Select	NP_000496.2:p.Cys217Phe