Canonical Allele Identifier: CA564899993

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1425524182
• gnomAD v2: 5-176831426-C-T
• gnomAD v4: 5-177404425-C-T
• MyVariant Identifiers: chr5:g.176831426C>T (hg19) ; chr5:g.177404425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404425C>T , CM000667.2:g.177404425C>T	GRCh38
NC_000005.9:g.176831426C>T , CM000667.1:g.176831426C>T	GRCh37
NC_000005.8:g.176764032C>T	NCBI36
NG_007568.1:g.10152G>A , LRG_145:g.10152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*467-12G>A (F12)	ENSP00000512476.1:n.*467-12G>A
ENST00000696193.1:c.*1171-12G>A (F12)	ENSP00000512477.1:n.*1171-12G>A
ENST00000696194.1:c.*391-12G>A (F12)	ENSP00000512478.1:n.*391-12G>A
ENST00000696195.1:n.3604-12G>A (F12)
ENST00000696200.1:n.904-12G>A (F12)
ENST00000696201.1:c.801-12G>A (F12)	ENSP00000512482.1:n.801-12G>A
ENST00000253496.4:c.801-12G>A (F12) MANE Select	ENSP00000253496.3:n.801-12G>A
ENST00000253496.3:c.801-12G>A (F12)	ENSP00000253496.3:n.801-12G>A
ENST00000502598.5:c.-45+899C>T (GRK6)	ENSP00000422873.1:n.-45+899C>T
ENST00000502854.5:n.48G>A (F12)
ENST00000503736.1:n.173-12G>A (F12)
ENST00000506296.5:c.-177C>T (GRK6)	ENSP00000421055.1:n.-177C>T
ENST00000510358.5:n.48G>A (F12)
NM_000505.3:c.801-12G>A , LRG_145t1:c.801-12G>A (F12)	NP_000496.2:n.801-12G>A
XM_011534461.1:c.801-12G>A (F12)	XP_011532763.1:n.801-12G>A
XM_011534462.1:c.465-12G>A (F12)	XP_011532764.1:n.465-12G>A
XM_011534462.2:c.465-12G>A (F12)	XP_011532764.1:n.465-12G>A
XM_017009773.2:c.1417-7339C>T (SLC34A1)	XP_016865262.1:n.1417-7339C>T
NM_000505.4:c.801-12G>A (F12) MANE Select	NP_000496.2:n.801-12G>A