Canonical Allele Identifier: CA362329036

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831526C>G (hg19) ; chr5:g.177404525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404525C>G , CM000667.2:g.177404525C>G	GRCh38
NC_000005.9:g.176831526C>G , CM000667.1:g.176831526C>G	GRCh37
NC_000005.8:g.176764132C>G	NCBI36
NG_007568.1:g.10052G>C , LRG_145:g.10052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696192.1:c.*440G>C (F12)	ENSP00000512476.1:n.*440G>C
ENST00000696193.1:c.*1144G>C (F12)	ENSP00000512477.1:n.*1144G>C
ENST00000696194.1:c.*364G>C (F12)	ENSP00000512478.1:n.*364G>C
ENST00000696195.1:n.3577G>C (F12)
ENST00000696200.1:n.877G>C (F12)
ENST00000696201.1:c.774G>C (F12)	ENSP00000512482.1:p.Trp258Cys
ENST00000253496.4:c.774G>C (F12) MANE Select	ENSP00000253496.3:p.Trp258Cys
ENST00000253496.3:c.774G>C (F12)	ENSP00000253496.3:p.Trp258Cys
ENST00000502598.5:c.-45+999C>G (GRK6)	ENSP00000422873.1:n.-45+999C>G
ENST00000503736.1:n.173-112G>C (F12)
ENST00000506296.5:c.-77C>G (GRK6)	ENSP00000421055.1:n.-77C>G
NM_000505.3:c.774G>C , LRG_145t1:c.774G>C (F12)	NP_000496.2:p.Trp258Cys
XM_011534461.1:c.774G>C (F12)	XP_011532763.1:p.Trp258Cys
XM_011534462.1:c.438G>C (F12)	XP_011532764.1:p.Trp146Cys
XM_011534462.2:c.438G>C (F12)	XP_011532764.1:p.Trp146Cys
XM_017009773.2:c.1417-7239C>G (SLC34A1)	XP_016865262.1:n.1417-7239C>G
NM_000505.4:c.774G>C (F12) MANE Select	NP_000496.2:p.Trp258Cys