Canonical Allele Identifier: CA808070085

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1371283199
• gnomAD v3: 5-177403757-G-T
• gnomAD v4: 5-177403757-G-T
• MyVariant Identifiers: chr5:g.176830758G>T (hg19) ; chr5:g.177403757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403757G>T , CM000667.2:g.177403757G>T	GRCh38
NC_000005.9:g.176830758G>T , CM000667.1:g.176830758G>T	GRCh37
NC_000005.8:g.176763364G>T	NCBI36
NG_007568.1:g.10820C>A , LRG_145:g.10820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*916+102C>A (F12)	ENSP00000512476.1:n.*916+102C>A
ENST00000696193.1:c.*1637+102C>A (F12)	ENSP00000512477.1:n.*1637+102C>A
ENST00000696194.1:c.*840+102C>A (F12)	ENSP00000512478.1:n.*840+102C>A
ENST00000696195.1:n.4053+102C>A (F12)
ENST00000696200.1:n.1455C>A (F12)
ENST00000696201.1:c.1250+102C>A (F12)	ENSP00000512482.1:n.1250+102C>A
ENST00000253496.4:c.1250+102C>A (F12) MANE Select	ENSP00000253496.3:n.1250+102C>A
ENST00000253496.3:c.1250+102C>A (F12)	ENSP00000253496.3:n.1250+102C>A
ENST00000502598.5:c.-45+231G>T (GRK6)	ENSP00000422873.1:n.-45+231G>T
ENST00000502854.5:n.611C>A (F12)
ENST00000503736.1:n.622+102C>A (F12)
ENST00000510358.5:n.716C>A (F12)
NM_000505.3:c.1250+102C>A , LRG_145t1:c.1250+102C>A (F12)	NP_000496.2:n.1250+102C>A
XM_011534461.1:c.1250+102C>A (F12)	XP_011532763.1:n.1250+102C>A
XM_011534462.1:c.914+102C>A (F12)	XP_011532764.1:n.914+102C>A
XM_011534462.2:c.914+102C>A (F12)	XP_011532764.1:n.914+102C>A
XM_017009773.2:c.1416+6683G>T (SLC34A1)	XP_016865262.1:n.1416+6683G>T
NM_000505.4:c.1250+102C>A (F12) MANE Select	NP_000496.2:n.1250+102C>A