Canonical Allele Identifier: CA447728388

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177405973-G-C
• MyVariant Identifiers: chr5:g.176832974G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177405973G>C , CM000667.2:g.177405973G>C	GRCh38
NC_000005.9:g.176832974G>C , CM000667.1:g.176832974G>C	GRCh37
NC_000005.8:g.176765580G>C	NCBI36
NG_007568.1:g.8604C>G , LRG_145:g.8604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.204C>G (F12)	ENSP00000512476.1:p.Gly68=
ENST00000696193.1:c.*128C>G (F12)	ENSP00000512477.1:n.*128C>G
ENST00000696194.1:c.204C>G (F12)	ENSP00000512478.1:p.Gly68=
ENST00000696195.1:n.2561C>G (F12)
ENST00000696200.1:n.307C>G (F12)
ENST00000696201.1:c.204C>G (F12)	ENSP00000512482.1:p.Gly68=
ENST00000253496.4:c.204C>G (F12) MANE Select	ENSP00000253496.3:p.Gly68=
ENST00000253496.3:c.204C>G (F12)	ENSP00000253496.3:p.Gly68=
ENST00000502598.5:c.-45+2447G>C (GRK6)	ENSP00000422873.1:n.-45+2447G>C
ENST00000506296.5:c.-45+1416G>C (GRK6)	ENSP00000421055.1:n.-45+1416G>C
NM_000505.3:c.204C>G , LRG_145t1:c.204C>G (F12)	NP_000496.2:p.Gly68=
XM_011534461.1:c.204C>G (F12)	XP_011532763.1:p.Gly68=
XM_017009773.2:c.1417-5791G>C (SLC34A1)	XP_016865262.1:n.1417-5791G>C
NM_000505.4:c.204C>G (F12) MANE Select	NP_000496.2:p.Gly68=