Canonical Allele Identifier: CA362329094

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831542T>G (hg19) ; chr5:g.177404541T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404541T>G , CM000667.2:g.177404541T>G	GRCh38
NC_000005.9:g.176831542T>G , CM000667.1:g.176831542T>G	GRCh37
NC_000005.8:g.176764148T>G	NCBI36
NG_007568.1:g.10036A>C , LRG_145:g.10036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*424A>C (F12)	ENSP00000512476.1:n.*424A>C
ENST00000696193.1:c.*1128A>C (F12)	ENSP00000512477.1:n.*1128A>C
ENST00000696194.1:c.*348A>C (F12)	ENSP00000512478.1:n.*348A>C
ENST00000696195.1:n.3561A>C (F12)
ENST00000696200.1:n.861A>C (F12)
ENST00000696201.1:c.758A>C (F12)	ENSP00000512482.1:p.Glu253Ala
ENST00000253496.4:c.758A>C (F12) MANE Select	ENSP00000253496.3:p.Glu253Ala
ENST00000253496.3:c.758A>C (F12)	ENSP00000253496.3:p.Glu253Ala
ENST00000502598.5:c.-45+1015T>G (GRK6)	ENSP00000422873.1:n.-45+1015T>G
ENST00000503736.1:n.173-128A>C (F12)
ENST00000506296.5:c.-61T>G (GRK6)	ENSP00000421055.1:n.-61T>G
NM_000505.3:c.758A>C , LRG_145t1:c.758A>C (F12)	NP_000496.2:p.Glu253Ala
XM_011534461.1:c.758A>C (F12)	XP_011532763.1:p.Glu253Ala
XM_011534462.1:c.422A>C (F12)	XP_011532764.1:p.Glu141Ala
XM_011534462.2:c.422A>C (F12)	XP_011532764.1:p.Glu141Ala
XM_017009773.2:c.1417-7223T>G (SLC34A1)	XP_016865262.1:n.1417-7223T>G
NM_000505.4:c.758A>C (F12) MANE Select	NP_000496.2:p.Glu253Ala