Canonical Allele Identifier: CA362329123

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831551A>G (hg19) ; chr5:g.177404550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404550A>G , CM000667.2:g.177404550A>G	GRCh38
NC_000005.9:g.176831551A>G , CM000667.1:g.176831551A>G	GRCh37
NC_000005.8:g.176764157A>G	NCBI36
NG_007568.1:g.10027T>C , LRG_145:g.10027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*415T>C (F12)	ENSP00000512476.1:n.*415T>C
ENST00000696193.1:c.*1119T>C (F12)	ENSP00000512477.1:n.*1119T>C
ENST00000696194.1:c.*339T>C (F12)	ENSP00000512478.1:n.*339T>C
ENST00000696195.1:n.3552T>C (F12)
ENST00000696200.1:n.852T>C (F12)
ENST00000696201.1:c.749T>C (F12)	ENSP00000512482.1:p.Val250Ala
ENST00000253496.4:c.749T>C (F12) MANE Select	ENSP00000253496.3:p.Val250Ala
ENST00000253496.3:c.749T>C (F12)	ENSP00000253496.3:p.Val250Ala
ENST00000502598.5:c.-45+1024A>G (GRK6)	ENSP00000422873.1:n.-45+1024A>G
ENST00000503736.1:n.173-137T>C (F12)
ENST00000506296.5:c.-52A>G (GRK6)	ENSP00000421055.1:n.-52A>G
NM_000505.3:c.749T>C , LRG_145t1:c.749T>C (F12)	NP_000496.2:p.Val250Ala
XM_011534461.1:c.749T>C (F12)	XP_011532763.1:p.Val250Ala
XM_011534462.1:c.413T>C (F12)	XP_011532764.1:p.Val138Ala
XM_011534462.2:c.413T>C (F12)	XP_011532764.1:p.Val138Ala
XM_017009773.2:c.1417-7214A>G (SLC34A1)	XP_016865262.1:n.1417-7214A>G
NM_000505.4:c.749T>C (F12) MANE Select	NP_000496.2:p.Val250Ala