Canonical Allele Identifier: CA362328342

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1763224943
• gnomAD v4: 5-177404250-G-C
• MyVariant Identifiers: chr5:g.176831251G>C (hg19) ; chr5:g.177404250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404250G>C , CM000667.2:g.177404250G>C	GRCh38
NC_000005.9:g.176831251G>C , CM000667.1:g.176831251G>C	GRCh37
NC_000005.8:g.176763857G>C	NCBI36
NG_007568.1:g.10327C>G , LRG_145:g.10327C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*630C>G (F12)	ENSP00000512476.1:n.*630C>G
ENST00000696193.1:c.*1334C>G (F12)	ENSP00000512477.1:n.*1334C>G
ENST00000696194.1:c.*554C>G (F12)	ENSP00000512478.1:n.*554C>G
ENST00000696195.1:n.3767C>G (F12)
ENST00000696200.1:n.1067C>G (F12)
ENST00000696201.1:c.964C>G (F12)	ENSP00000512482.1:p.Pro322Ala
ENST00000253496.4:c.964C>G (F12) MANE Select	ENSP00000253496.3:p.Pro322Ala
ENST00000253496.3:c.964C>G (F12)	ENSP00000253496.3:p.Pro322Ala
ENST00000502598.5:c.-45+724G>C (GRK6)	ENSP00000422873.1:n.-45+724G>C
ENST00000502854.5:n.223C>G (F12)
ENST00000503736.1:n.336C>G (F12)
ENST00000510358.5:n.223C>G (F12)
NM_000505.3:c.964C>G , LRG_145t1:c.964C>G (F12)	NP_000496.2:p.Pro322Ala
XM_011534461.1:c.964C>G (F12)	XP_011532763.1:p.Pro322Ala
XM_011534462.1:c.628C>G (F12)	XP_011532764.1:p.Pro210Ala
XM_011534462.2:c.628C>G (F12)	XP_011532764.1:p.Pro210Ala
XM_017009773.2:c.1416+7176G>C (SLC34A1)	XP_016865262.1:n.1416+7176G>C
NM_000505.4:c.964C>G (F12) MANE Select	NP_000496.2:p.Pro322Ala