Canonical Allele Identifier: CA362327358

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176830977A>G (hg19) ; chr5:g.177403976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177403976A>G , CM000667.2:g.177403976A>G	GRCh38
NC_000005.9:g.176830977A>G , CM000667.1:g.176830977A>G	GRCh37
NC_000005.8:g.176763583A>G	NCBI36
NG_007568.1:g.10601T>C , LRG_145:g.10601T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*799T>C (F12)	ENSP00000512476.1:n.*799T>C
ENST00000696193.1:c.*1520T>C (F12)	ENSP00000512477.1:n.*1520T>C
ENST00000696194.1:c.*723T>C (F12)	ENSP00000512478.1:n.*723T>C
ENST00000696195.1:n.3936T>C (F12)
ENST00000696200.1:n.1236T>C (F12)
ENST00000696201.1:c.1133T>C (F12)	ENSP00000512482.1:p.Val378Ala
ENST00000253496.4:c.1133T>C (F12) MANE Select	ENSP00000253496.3:p.Val378Ala
ENST00000253496.3:c.1133T>C (F12)	ENSP00000253496.3:p.Val378Ala
ENST00000502598.5:c.-45+450A>G (GRK6)	ENSP00000422873.1:n.-45+450A>G
ENST00000502854.5:n.392T>C (F12)
ENST00000503736.1:n.505T>C (F12)
ENST00000510358.5:n.497T>C (F12)
NM_000505.3:c.1133T>C , LRG_145t1:c.1133T>C (F12)	NP_000496.2:p.Val378Ala
XM_011534461.1:c.1133T>C (F12)	XP_011532763.1:p.Val378Ala
XM_011534462.1:c.797T>C (F12)	XP_011532764.1:p.Val266Ala
XM_011534462.2:c.797T>C (F12)	XP_011532764.1:p.Val266Ala
XM_017009773.2:c.1416+6902A>G (SLC34A1)	XP_016865262.1:n.1416+6902A>G
NM_000505.4:c.1133T>C (F12) MANE Select	NP_000496.2:p.Val378Ala