Canonical Allele Identifier: CA132836497

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1023048353
• gnomAD v4: 5-177404195-C-A
• MyVariant Identifiers: chr5:g.176831196C>A (hg19) ; chr5:g.177404195C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404195C>A , CM000667.2:g.177404195C>A	GRCh38
NC_000005.9:g.176831196C>A , CM000667.1:g.176831196C>A	GRCh37
NC_000005.8:g.176763802C>A	NCBI36
NG_007568.1:g.10382G>T , LRG_145:g.10382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*684+1G>T (F12)	ENSP00000512476.1:n.*684+1G>T
ENST00000696193.1:c.*1388+1G>T (F12)	ENSP00000512477.1:n.*1388+1G>T
ENST00000696194.1:c.*608+1G>T (F12)	ENSP00000512478.1:n.*608+1G>T
ENST00000696195.1:n.3821+1G>T (F12)
ENST00000696200.1:n.1121+1G>T (F12)
ENST00000696201.1:c.1018+1G>T (F12)	ENSP00000512482.1:n.1018+1G>T
ENST00000253496.4:c.1018+1G>T (F12) MANE Select	ENSP00000253496.3:n.1018+1G>T
ENST00000253496.3:c.1018+1G>T (F12)	ENSP00000253496.3:n.1018+1G>T
ENST00000502598.5:c.-45+669C>A (GRK6)	ENSP00000422873.1:n.-45+669C>A
ENST00000502854.5:n.277+1G>T (F12)
ENST00000503736.1:n.390+1G>T (F12)
ENST00000510358.5:n.278G>T (F12)
NM_000505.3:c.1018+1G>T , LRG_145t1:c.1018+1G>T (F12)	NP_000496.2:n.1018+1G>T
XM_011534461.1:c.1018+1G>T (F12)	XP_011532763.1:n.1018+1G>T
XM_011534462.1:c.682+1G>T (F12)	XP_011532764.1:n.682+1G>T
XM_011534462.2:c.682+1G>T (F12)	XP_011532764.1:n.682+1G>T
XM_017009773.2:c.1416+7121C>A (SLC34A1)	XP_016865262.1:n.1416+7121C>A
NM_000505.4:c.1018+1G>T (F12) MANE Select	NP_000496.2:n.1018+1G>T