Canonical Allele Identifier: CA362329470

Gene: F12 GRK6 SLC34A1

Linked Data

• gnomAD v4: 5-177404647-A-G
• MyVariant Identifiers: chr5:g.176831648A>G (hg19) ; chr5:g.177404647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404647A>G , CM000667.2:g.177404647A>G	GRCh38
NC_000005.9:g.176831648A>G , CM000667.1:g.176831648A>G	GRCh37
NC_000005.8:g.176764254A>G	NCBI36
NG_007568.1:g.9930T>C , LRG_145:g.9930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*318T>C (F12)	ENSP00000512476.1:n.*318T>C
ENST00000696193.1:c.*1022T>C (F12)	ENSP00000512477.1:n.*1022T>C
ENST00000696194.1:c.*242T>C (F12)	ENSP00000512478.1:n.*242T>C
ENST00000696195.1:n.3455T>C (F12)
ENST00000696200.1:n.755T>C (F12)
ENST00000696201.1:c.652T>C (F12)	ENSP00000512482.1:p.Tyr218His
ENST00000253496.4:c.652T>C (F12) MANE Select	ENSP00000253496.3:p.Tyr218His
ENST00000253496.3:c.652T>C (F12)	ENSP00000253496.3:p.Tyr218His
ENST00000502598.5:c.-45+1121A>G (GRK6)	ENSP00000422873.1:n.-45+1121A>G
ENST00000503736.1:n.172+163T>C (F12)
ENST00000506296.5:c.-45+90A>G (GRK6)	ENSP00000421055.1:n.-45+90A>G
NM_000505.3:c.652T>C , LRG_145t1:c.652T>C (F12)	NP_000496.2:p.Tyr218His
XM_011534461.1:c.652T>C (F12)	XP_011532763.1:p.Tyr218His
XM_011534462.1:c.316T>C (F12)	XP_011532764.1:p.Tyr106His
XM_011534462.2:c.316T>C (F12)	XP_011532764.1:p.Tyr106His
XM_017009773.2:c.1417-7117A>G (SLC34A1)	XP_016865262.1:n.1417-7117A>G
NM_000505.4:c.652T>C (F12) MANE Select	NP_000496.2:p.Tyr218His