Canonical Allele Identifier: CA362327963

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831064G>T (hg19) ; chr5:g.177404063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404063G>T , CM000667.2:g.177404063G>T	GRCh38
NC_000005.9:g.176831064G>T , CM000667.1:g.176831064G>T	GRCh37
NC_000005.8:g.176763670G>T	NCBI36
NG_007568.1:g.10514C>A , LRG_145:g.10514C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*712C>A (F12)	ENSP00000512476.1:n.*712C>A
ENST00000696193.1:c.*1433C>A (F12)	ENSP00000512477.1:n.*1433C>A
ENST00000696194.1:c.*636C>A (F12)	ENSP00000512478.1:n.*636C>A
ENST00000696195.1:n.3849C>A (F12)
ENST00000696200.1:n.1149C>A (F12)
ENST00000696201.1:c.1046C>A (F12)	ENSP00000512482.1:p.Pro349His
ENST00000253496.4:c.1046C>A (F12) MANE Select	ENSP00000253496.3:p.Pro349His
ENST00000253496.3:c.1046C>A (F12)	ENSP00000253496.3:p.Pro349His
ENST00000502598.5:c.-45+537G>T (GRK6)	ENSP00000422873.1:n.-45+537G>T
ENST00000502854.5:n.305C>A (F12)
ENST00000503736.1:n.418C>A (F12)
ENST00000510358.5:n.410C>A (F12)
NM_000505.3:c.1046C>A , LRG_145t1:c.1046C>A (F12)	NP_000496.2:p.Pro349His
XM_011534461.1:c.1046C>A (F12)	XP_011532763.1:p.Pro349His
XM_011534462.1:c.710C>A (F12)	XP_011532764.1:p.Pro237His
XM_011534462.2:c.710C>A (F12)	XP_011532764.1:p.Pro237His
XM_017009773.2:c.1416+6989G>T (SLC34A1)	XP_016865262.1:n.1416+6989G>T
NM_000505.4:c.1046C>A (F12) MANE Select	NP_000496.2:p.Pro349His