Canonical Allele Identifier: CA362329263

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1382485813
• gnomAD v3: 5-177404586-C-A
• gnomAD v4: 5-177404586-C-A
• MyVariant Identifiers: chr5:g.176831587C>A (hg19) ; chr5:g.177404586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404586C>A , CM000667.2:g.177404586C>A	GRCh38
NC_000005.9:g.176831587C>A , CM000667.1:g.176831587C>A	GRCh37
NC_000005.8:g.176764193C>A	NCBI36
NG_007568.1:g.9991G>T , LRG_145:g.9991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*379G>T (F12)	ENSP00000512476.1:n.*379G>T
ENST00000696193.1:c.*1083G>T (F12)	ENSP00000512477.1:n.*1083G>T
ENST00000696194.1:c.*303G>T (F12)	ENSP00000512478.1:n.*303G>T
ENST00000696195.1:n.3516G>T (F12)
ENST00000696200.1:n.816G>T (F12)
ENST00000696201.1:c.713G>T (F12)	ENSP00000512482.1:p.Cys238Phe
ENST00000253496.4:c.713G>T (F12) MANE Select	ENSP00000253496.3:p.Cys238Phe
ENST00000253496.3:c.713G>T (F12)	ENSP00000253496.3:p.Cys238Phe
ENST00000502598.5:c.-45+1060C>A (GRK6)	ENSP00000422873.1:n.-45+1060C>A
ENST00000503736.1:n.173-173G>T (F12)
ENST00000506296.5:c.-45+29C>A (GRK6)	ENSP00000421055.1:n.-45+29C>A
NM_000505.3:c.713G>T , LRG_145t1:c.713G>T (F12)	NP_000496.2:p.Cys238Phe
XM_011534461.1:c.713G>T (F12)	XP_011532763.1:p.Cys238Phe
XM_011534462.1:c.377G>T (F12)	XP_011532764.1:p.Cys126Phe
XM_011534462.2:c.377G>T (F12)	XP_011532764.1:p.Cys126Phe
XM_017009773.2:c.1417-7178C>A (SLC34A1)	XP_016865262.1:n.1417-7178C>A
NM_000505.4:c.713G>T (F12) MANE Select	NP_000496.2:p.Cys238Phe