Canonical Allele Identifier: CA362329517

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs1763239966
• gnomAD v4: 5-177404658-T-C
• MyVariant Identifiers: chr5:g.176831659T>C (hg19) ; chr5:g.177404658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404658T>C , CM000667.2:g.177404658T>C	GRCh38
NC_000005.9:g.176831659T>C , CM000667.1:g.176831659T>C	GRCh37
NC_000005.8:g.176764265T>C	NCBI36
NG_007568.1:g.9919A>G , LRG_145:g.9919A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*307A>G (F12)	ENSP00000512476.1:n.*307A>G
ENST00000696193.1:c.*1011A>G (F12)	ENSP00000512477.1:n.*1011A>G
ENST00000696194.1:c.*231A>G (F12)	ENSP00000512478.1:n.*231A>G
ENST00000696195.1:n.3444A>G (F12)
ENST00000696200.1:n.744A>G (F12)
ENST00000696201.1:c.641A>G (F12)	ENSP00000512482.1:p.Lys214Arg
ENST00000253496.4:c.641A>G (F12) MANE Select	ENSP00000253496.3:p.Lys214Arg
ENST00000253496.3:c.641A>G (F12)	ENSP00000253496.3:p.Lys214Arg
ENST00000502598.5:c.-45+1132T>C (GRK6)	ENSP00000422873.1:n.-45+1132T>C
ENST00000503736.1:n.172+152A>G (F12)
ENST00000506296.5:c.-45+101T>C (GRK6)	ENSP00000421055.1:n.-45+101T>C
NM_000505.3:c.641A>G , LRG_145t1:c.641A>G (F12)	NP_000496.2:p.Lys214Arg
XM_011534461.1:c.641A>G (F12)	XP_011532763.1:p.Lys214Arg
XM_011534462.1:c.305A>G (F12)	XP_011532764.1:p.Lys102Arg
XM_011534462.2:c.305A>G (F12)	XP_011532764.1:p.Lys102Arg
XM_017009773.2:c.1417-7106T>C (SLC34A1)	XP_016865262.1:n.1417-7106T>C
NM_000505.4:c.641A>G (F12) MANE Select	NP_000496.2:p.Lys214Arg