Canonical Allele Identifier: CA3581413

Gene: F12 GRK6 SLC34A1

Linked Data

• dbSNP Id: rs371503102
• ExAC: 5:176831647 T / C
• gnomAD v2: 5-176831647-T-C
• gnomAD v3: 5-177404646-T-C
• gnomAD v4: 5-177404646-T-C
• MyVariant Identifiers: chr5:g.176831647T>C (hg19) ; chr5:g.177404646T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404646T>C , CM000667.2:g.177404646T>C	GRCh38
NC_000005.9:g.176831647T>C , CM000667.1:g.176831647T>C	GRCh37
NC_000005.8:g.176764253T>C	NCBI36
NG_007568.1:g.9931A>G , LRG_145:g.9931A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*319A>G (F12)	ENSP00000512476.1:n.*319A>G
ENST00000696193.1:c.*1023A>G (F12)	ENSP00000512477.1:n.*1023A>G
ENST00000696194.1:c.*243A>G (F12)	ENSP00000512478.1:n.*243A>G
ENST00000696195.1:n.3456A>G (F12)
ENST00000696200.1:n.756A>G (F12)
ENST00000696201.1:c.653A>G (F12)	ENSP00000512482.1:p.Tyr218Cys
ENST00000253496.4:c.653A>G (F12) MANE Select	ENSP00000253496.3:p.Tyr218Cys
ENST00000253496.3:c.653A>G (F12)	ENSP00000253496.3:p.Tyr218Cys
ENST00000502598.5:c.-45+1120T>C (GRK6)	ENSP00000422873.1:n.-45+1120T>C
ENST00000503736.1:n.172+164A>G (F12)
ENST00000506296.5:c.-45+89T>C (GRK6)	ENSP00000421055.1:n.-45+89T>C
NM_000505.3:c.653A>G , LRG_145t1:c.653A>G (F12)	NP_000496.2:p.Tyr218Cys
XM_011534461.1:c.653A>G (F12)	XP_011532763.1:p.Tyr218Cys
XM_011534462.1:c.317A>G (F12)	XP_011532764.1:p.Tyr106Cys
XM_011534462.2:c.317A>G (F12)	XP_011532764.1:p.Tyr106Cys
XM_017009773.2:c.1417-7118T>C (SLC34A1)	XP_016865262.1:n.1417-7118T>C
NM_000505.4:c.653A>G (F12) MANE Select	NP_000496.2:p.Tyr218Cys