Canonical Allele Identifier: CA362329125

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1442099745
• gnomAD v2: 5-176831552-C-A
• gnomAD v4: 5-177404551-C-A
• MyVariant Identifiers: chr5:g.176831552C>A (hg19) ; chr5:g.177404551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404551C>A , CM000667.2:g.177404551C>A	GRCh38
NC_000005.9:g.176831552C>A , CM000667.1:g.176831552C>A	GRCh37
NC_000005.8:g.176764158C>A	NCBI36
NG_007568.1:g.10026G>T , LRG_145:g.10026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*414G>T (F12)	ENSP00000512476.1:n.*414G>T
ENST00000696193.1:c.*1118G>T (F12)	ENSP00000512477.1:n.*1118G>T
ENST00000696194.1:c.*338G>T (F12)	ENSP00000512478.1:n.*338G>T
ENST00000696195.1:n.3551G>T (F12)
ENST00000696200.1:n.851G>T (F12)
ENST00000696201.1:c.748G>T (F12)	ENSP00000512482.1:p.Val250Leu
ENST00000253496.4:c.748G>T (F12) MANE Select	ENSP00000253496.3:p.Val250Leu
ENST00000253496.3:c.748G>T (F12)	ENSP00000253496.3:p.Val250Leu
ENST00000502598.5:c.-45+1025C>A (GRK6)	ENSP00000422873.1:n.-45+1025C>A
ENST00000503736.1:n.173-138G>T (F12)
ENST00000506296.5:c.-51C>A (GRK6)	ENSP00000421055.1:n.-51C>A
NM_000505.3:c.748G>T , LRG_145t1:c.748G>T (F12)	NP_000496.2:p.Val250Leu
XM_011534461.1:c.748G>T (F12)	XP_011532763.1:p.Val250Leu
XM_011534462.1:c.412G>T (F12)	XP_011532764.1:p.Val138Leu
XM_011534462.2:c.412G>T (F12)	XP_011532764.1:p.Val138Leu
XM_017009773.2:c.1417-7213C>A (SLC34A1)	XP_016865262.1:n.1417-7213C>A
NM_000505.4:c.748G>T (F12) MANE Select	NP_000496.2:p.Val250Leu