Canonical Allele Identifier: CA447964967

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1205976732
• gnomAD v2: 5-176831618-G-A
• gnomAD v4: 5-177404617-G-A
• MyVariant Identifiers: chr5:g.176831618G>A (hg19) ; chr5:g.177404617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404617G>A , CM000667.2:g.177404617G>A	GRCh38
NC_000005.9:g.176831618G>A , CM000667.1:g.176831618G>A	GRCh37
NC_000005.8:g.176764224G>A	NCBI36
NG_007568.1:g.9960C>T , LRG_145:g.9960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*348C>T (F12)	ENSP00000512476.1:n.*348C>T
ENST00000696193.1:c.*1052C>T (F12)	ENSP00000512477.1:n.*1052C>T
ENST00000696194.1:c.*272C>T (F12)	ENSP00000512478.1:n.*272C>T
ENST00000696195.1:n.3485C>T (F12)
ENST00000696200.1:n.785C>T (F12)
ENST00000696201.1:c.682C>T (F12)	ENSP00000512482.1:p.Leu228=
ENST00000253496.4:c.682C>T (F12) MANE Select	ENSP00000253496.3:p.Leu228=
ENST00000253496.3:c.682C>T (F12)	ENSP00000253496.3:p.Leu228=
ENST00000502598.5:c.-45+1091G>A (GRK6)	ENSP00000422873.1:n.-45+1091G>A
ENST00000503736.1:n.172+193C>T (F12)
ENST00000506296.5:c.-45+60G>A (GRK6)	ENSP00000421055.1:n.-45+60G>A
NM_000505.3:c.682C>T , LRG_145t1:c.682C>T (F12)	NP_000496.2:p.Leu228=
XM_011534461.1:c.682C>T (F12)	XP_011532763.1:p.Leu228=
XM_011534462.1:c.346C>T (F12)	XP_011532764.1:p.Leu116=
XM_011534462.2:c.346C>T (F12)	XP_011532764.1:p.Leu116=
XM_017009773.2:c.1417-7147G>A (SLC34A1)	XP_016865262.1:n.1417-7147G>A
NM_000505.4:c.682C>T (F12) MANE Select	NP_000496.2:p.Leu228=