Canonical Allele Identifier: CA362329319

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1324965366
• gnomAD v2: 5-176831603-G-T
• gnomAD v3: 5-177404602-G-T
• gnomAD v4: 5-177404602-G-T
• MyVariant Identifiers: chr5:g.176831603G>T (hg19) ; chr5:g.177404602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404602G>T , CM000667.2:g.177404602G>T	GRCh38
NC_000005.9:g.176831603G>T , CM000667.1:g.176831603G>T	GRCh37
NC_000005.8:g.176764209G>T	NCBI36
NG_007568.1:g.9975C>A , LRG_145:g.9975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*363C>A (F12)	ENSP00000512476.1:n.*363C>A
ENST00000696193.1:c.*1067C>A (F12)	ENSP00000512477.1:n.*1067C>A
ENST00000696194.1:c.*287C>A (F12)	ENSP00000512478.1:n.*287C>A
ENST00000696195.1:n.3500C>A (F12)
ENST00000696200.1:n.800C>A (F12)
ENST00000696201.1:c.697C>A (F12)	ENSP00000512482.1:p.Leu233Ile
ENST00000253496.4:c.697C>A (F12) MANE Select	ENSP00000253496.3:p.Leu233Ile
ENST00000253496.3:c.697C>A (F12)	ENSP00000253496.3:p.Leu233Ile
ENST00000502598.5:c.-45+1076G>T (GRK6)	ENSP00000422873.1:n.-45+1076G>T
ENST00000503736.1:n.173-189C>A (F12)
ENST00000506296.5:c.-45+45G>T (GRK6)	ENSP00000421055.1:n.-45+45G>T
NM_000505.3:c.697C>A , LRG_145t1:c.697C>A (F12)	NP_000496.2:p.Leu233Ile
XM_011534461.1:c.697C>A (F12)	XP_011532763.1:p.Leu233Ile
XM_011534462.1:c.361C>A (F12)	XP_011532764.1:p.Leu121Ile
XM_011534462.2:c.361C>A (F12)	XP_011532764.1:p.Leu121Ile
XM_017009773.2:c.1417-7162G>T (SLC34A1)	XP_016865262.1:n.1417-7162G>T
NM_000505.4:c.697C>A (F12) MANE Select	NP_000496.2:p.Leu233Ile