Canonical Allele Identifier: CA362328074

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831087C>G (hg19) ; chr5:g.177404086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404086C>G , CM000667.2:g.177404086C>G	GRCh38
NC_000005.9:g.176831087C>G , CM000667.1:g.176831087C>G	GRCh37
NC_000005.8:g.176763693C>G	NCBI36
NG_007568.1:g.10491G>C , LRG_145:g.10491G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*689G>C (F12)	ENSP00000512476.1:n.*689G>C
ENST00000696193.1:c.*1410G>C (F12)	ENSP00000512477.1:n.*1410G>C
ENST00000696194.1:c.*613G>C (F12)	ENSP00000512478.1:n.*613G>C
ENST00000696195.1:n.3826G>C (F12)
ENST00000696200.1:n.1126G>C (F12)
ENST00000696201.1:c.1023G>C (F12)	ENSP00000512482.1:p.Leu341Phe
ENST00000253496.4:c.1023G>C (F12) MANE Select	ENSP00000253496.3:p.Leu341Phe
ENST00000253496.3:c.1023G>C (F12)	ENSP00000253496.3:p.Leu341Phe
ENST00000502598.5:c.-45+560C>G (GRK6)	ENSP00000422873.1:n.-45+560C>G
ENST00000502854.5:n.282G>C (F12)
ENST00000503736.1:n.395G>C (F12)
ENST00000510358.5:n.387G>C (F12)
NM_000505.3:c.1023G>C , LRG_145t1:c.1023G>C (F12)	NP_000496.2:p.Leu341Phe
XM_011534461.1:c.1023G>C (F12)	XP_011532763.1:p.Leu341Phe
XM_011534462.1:c.687G>C (F12)	XP_011532764.1:p.Leu229Phe
XM_011534462.2:c.687G>C (F12)	XP_011532764.1:p.Leu229Phe
XM_017009773.2:c.1416+7012C>G (SLC34A1)	XP_016865262.1:n.1416+7012C>G
NM_000505.4:c.1023G>C (F12) MANE Select	NP_000496.2:p.Leu341Phe