Canonical Allele Identifier: CA362329173

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404563-T-C
• MyVariant Identifiers: chr5:g.176831564T>C (hg19) ; chr5:g.177404563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404563T>C , CM000667.2:g.177404563T>C	GRCh38
NC_000005.9:g.176831564T>C , CM000667.1:g.176831564T>C	GRCh37
NC_000005.8:g.176764170T>C	NCBI36
NG_007568.1:g.10014A>G , LRG_145:g.10014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*402A>G (F12)	ENSP00000512476.1:n.*402A>G
ENST00000696193.1:c.*1106A>G (F12)	ENSP00000512477.1:n.*1106A>G
ENST00000696194.1:c.*326A>G (F12)	ENSP00000512478.1:n.*326A>G
ENST00000696195.1:n.3539A>G (F12)
ENST00000696200.1:n.839A>G (F12)
ENST00000696201.1:c.736A>G (F12)	ENSP00000512482.1:p.Thr246Ala
ENST00000253496.4:c.736A>G (F12) MANE Select	ENSP00000253496.3:p.Thr246Ala
ENST00000253496.3:c.736A>G (F12)	ENSP00000253496.3:p.Thr246Ala
ENST00000502598.5:c.-45+1037T>C (GRK6)	ENSP00000422873.1:n.-45+1037T>C
ENST00000503736.1:n.173-150A>G (F12)
ENST00000506296.5:c.-45+6T>C (GRK6)	ENSP00000421055.1:n.-45+6T>C
NM_000505.3:c.736A>G , LRG_145t1:c.736A>G (F12)	NP_000496.2:p.Thr246Ala
XM_011534461.1:c.736A>G (F12)	XP_011532763.1:p.Thr246Ala
XM_011534462.1:c.400A>G (F12)	XP_011532764.1:p.Thr134Ala
XM_011534462.2:c.400A>G (F12)	XP_011532764.1:p.Thr134Ala
XM_017009773.2:c.1417-7201T>C (SLC34A1)	XP_016865262.1:n.1417-7201T>C
NM_000505.4:c.736A>G (F12) MANE Select	NP_000496.2:p.Thr246Ala