Canonical Allele Identifier: CA447965026

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1217364711
• gnomAD v2: 5-176831538-T-C
• gnomAD v4: 5-177404537-T-C
• MyVariant Identifiers: chr5:g.176831538T>C (hg19) ; chr5:g.177404537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404537T>C , CM000667.2:g.177404537T>C	GRCh38
NC_000005.9:g.176831538T>C , CM000667.1:g.176831538T>C	GRCh37
NC_000005.8:g.176764144T>C	NCBI36
NG_007568.1:g.10040A>G , LRG_145:g.10040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*428A>G (F12)	ENSP00000512476.1:n.*428A>G
ENST00000696193.1:c.*1132A>G (F12)	ENSP00000512477.1:n.*1132A>G
ENST00000696194.1:c.*352A>G (F12)	ENSP00000512478.1:n.*352A>G
ENST00000696195.1:n.3565A>G (F12)
ENST00000696200.1:n.865A>G (F12)
ENST00000696201.1:c.762A>G (F12)	ENSP00000512482.1:p.Gln254=
ENST00000253496.4:c.762A>G (F12) MANE Select	ENSP00000253496.3:p.Gln254=
ENST00000253496.3:c.762A>G (F12)	ENSP00000253496.3:p.Gln254=
ENST00000502598.5:c.-45+1011T>C (GRK6)	ENSP00000422873.1:n.-45+1011T>C
ENST00000503736.1:n.173-124A>G (F12)
ENST00000506296.5:c.-65T>C (GRK6)	ENSP00000421055.1:n.-65T>C
NM_000505.3:c.762A>G , LRG_145t1:c.762A>G (F12)	NP_000496.2:p.Gln254=
XM_011534461.1:c.762A>G (F12)	XP_011532763.1:p.Gln254=
XM_011534462.1:c.426A>G (F12)	XP_011532764.1:p.Gln142=
XM_011534462.2:c.426A>G (F12)	XP_011532764.1:p.Gln142=
XM_017009773.2:c.1417-7227T>C (SLC34A1)	XP_016865262.1:n.1417-7227T>C
NM_000505.4:c.762A>G (F12) MANE Select	NP_000496.2:p.Gln254=