Canonical Allele Identifier: CA362328373

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404259-G-A
• MyVariant Identifiers: chr5:g.176831260G>A (hg19) ; chr5:g.177404259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404259G>A , CM000667.2:g.177404259G>A	GRCh38
NC_000005.9:g.176831260G>A , CM000667.1:g.176831260G>A	GRCh37
NC_000005.8:g.176763866G>A	NCBI36
NG_007568.1:g.10318C>T , LRG_145:g.10318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*621C>T (F12)	ENSP00000512476.1:n.*621C>T
ENST00000696193.1:c.*1325C>T (F12)	ENSP00000512477.1:n.*1325C>T
ENST00000696194.1:c.*545C>T (F12)	ENSP00000512478.1:n.*545C>T
ENST00000696195.1:n.3758C>T (F12)
ENST00000696200.1:n.1058C>T (F12)
ENST00000696201.1:c.955C>T (F12)	ENSP00000512482.1:p.Gln319Ter
ENST00000253496.4:c.955C>T (F12) MANE Select	ENSP00000253496.3:p.Gln319Ter
ENST00000253496.3:c.955C>T (F12)	ENSP00000253496.3:p.Gln319Ter
ENST00000502598.5:c.-45+733G>A (GRK6)	ENSP00000422873.1:n.-45+733G>A
ENST00000502854.5:n.214C>T (F12)
ENST00000503736.1:n.327C>T (F12)
ENST00000510358.5:n.214C>T (F12)
NM_000505.3:c.955C>T , LRG_145t1:c.955C>T (F12)	NP_000496.2:p.Gln319Ter
XM_011534461.1:c.955C>T (F12)	XP_011532763.1:p.Gln319Ter
XM_011534462.1:c.619C>T (F12)	XP_011532764.1:p.Gln207Ter
XM_011534462.2:c.619C>T (F12)	XP_011532764.1:p.Gln207Ter
XM_017009773.2:c.1416+7185G>A (SLC34A1)	XP_016865262.1:n.1416+7185G>A
NM_000505.4:c.955C>T (F12) MANE Select	NP_000496.2:p.Gln319Ter