Canonical Allele Identifier: CA564899928

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1281944108
• gnomAD v2: 5-176831147-A-C
• MyVariant Identifiers: chr5:g.176831147A>C (hg19) ; chr5:g.177404146A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404146A>C , CM000667.2:g.177404146A>C	GRCh38
NC_000005.9:g.176831147A>C , CM000667.1:g.176831147A>C	GRCh37
NC_000005.8:g.176763753A>C	NCBI36
NG_007568.1:g.10431T>G , LRG_145:g.10431T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*684+50T>G (F12)	ENSP00000512476.1:n.*684+50T>G
ENST00000696193.1:c.*1389-39T>G (F12)	ENSP00000512477.1:n.*1389-39T>G
ENST00000696194.1:c.*608+50T>G (F12)	ENSP00000512478.1:n.*608+50T>G
ENST00000696195.1:n.3821+50T>G (F12)
ENST00000696200.1:n.1121+50T>G (F12)
ENST00000696201.1:c.1018+50T>G (F12)	ENSP00000512482.1:n.1018+50T>G
ENST00000253496.4:c.1018+50T>G (F12) MANE Select	ENSP00000253496.3:n.1018+50T>G
ENST00000253496.3:c.1018+50T>G (F12)	ENSP00000253496.3:n.1018+50T>G
ENST00000502598.5:c.-45+620A>C (GRK6)	ENSP00000422873.1:n.-45+620A>C
ENST00000502854.5:n.277+50T>G (F12)
ENST00000503736.1:n.390+50T>G (F12)
ENST00000510358.5:n.327T>G (F12)
NM_000505.3:c.1018+50T>G , LRG_145t1:c.1018+50T>G (F12)	NP_000496.2:n.1018+50T>G
XM_011534461.1:c.1018+50T>G (F12)	XP_011532763.1:n.1018+50T>G
XM_011534462.1:c.682+50T>G (F12)	XP_011532764.1:n.682+50T>G
XM_011534462.2:c.682+50T>G (F12)	XP_011532764.1:n.682+50T>G
XM_017009773.2:c.1416+7072A>C (SLC34A1)	XP_016865262.1:n.1416+7072A>C
NM_000505.4:c.1018+50T>G (F12) MANE Select	NP_000496.2:n.1018+50T>G