Canonical Allele Identifier: CA362328911

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404411-T-C
• MyVariant Identifiers: chr5:g.176831412T>C (hg19) ; chr5:g.177404411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404411T>C , CM000667.2:g.177404411T>C	GRCh38
NC_000005.9:g.176831412T>C , CM000667.1:g.176831412T>C	GRCh37
NC_000005.8:g.176764018T>C	NCBI36
NG_007568.1:g.10166A>G , LRG_145:g.10166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*469A>G (F12)	ENSP00000512476.1:n.*469A>G
ENST00000696193.1:c.*1173A>G (F12)	ENSP00000512477.1:n.*1173A>G
ENST00000696194.1:c.*393A>G (F12)	ENSP00000512478.1:n.*393A>G
ENST00000696195.1:n.3606A>G (F12)
ENST00000696200.1:n.906A>G (F12)
ENST00000696201.1:c.803A>G (F12)	ENSP00000512482.1:p.Asn268Ser
ENST00000253496.4:c.803A>G (F12) MANE Select	ENSP00000253496.3:p.Asn268Ser
ENST00000253496.3:c.803A>G (F12)	ENSP00000253496.3:p.Asn268Ser
ENST00000502598.5:c.-45+885T>C (GRK6)	ENSP00000422873.1:n.-45+885T>C
ENST00000502854.5:n.62A>G (F12)
ENST00000503736.1:n.175A>G (F12)
ENST00000506296.5:c.-191T>C (GRK6)	ENSP00000421055.1:n.-191T>C
ENST00000510358.5:n.62A>G (F12)
NM_000505.3:c.803A>G , LRG_145t1:c.803A>G (F12)	NP_000496.2:p.Asn268Ser
XM_011534461.1:c.803A>G (F12)	XP_011532763.1:p.Asn268Ser
XM_011534462.1:c.467A>G (F12)	XP_011532764.1:p.Asn156Ser
XM_011534462.2:c.467A>G (F12)	XP_011532764.1:p.Asn156Ser
XM_017009773.2:c.1416+7337T>C (SLC34A1)	XP_016865262.1:n.1416+7337T>C
NM_000505.4:c.803A>G (F12) MANE Select	NP_000496.2:p.Asn268Ser