Canonical Allele Identifier: CA362327988

Gene: F12 GRK6 SLC34A1

Linked Data

• MyVariant Identifiers: chr5:g.176831070T>A (hg19) ; chr5:g.177404069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177404069T>A , CM000667.2:g.177404069T>A	GRCh38
NC_000005.9:g.176831070T>A , CM000667.1:g.176831070T>A	GRCh37
NC_000005.8:g.176763676T>A	NCBI36
NG_007568.1:g.10508A>T , LRG_145:g.10508A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696192.1:c.*706A>T (F12)	ENSP00000512476.1:n.*706A>T
ENST00000696193.1:c.*1427A>T (F12)	ENSP00000512477.1:n.*1427A>T
ENST00000696194.1:c.*630A>T (F12)	ENSP00000512478.1:n.*630A>T
ENST00000696195.1:n.3843A>T (F12)
ENST00000696200.1:n.1143A>T (F12)
ENST00000696201.1:c.1040A>T (F12)	ENSP00000512482.1:p.Gln347Leu
ENST00000253496.4:c.1040A>T (F12) MANE Select	ENSP00000253496.3:p.Gln347Leu
ENST00000253496.3:c.1040A>T (F12)	ENSP00000253496.3:p.Gln347Leu
ENST00000502598.5:c.-45+543T>A (GRK6)	ENSP00000422873.1:n.-45+543T>A
ENST00000502854.5:n.299A>T (F12)
ENST00000503736.1:n.412A>T (F12)
ENST00000510358.5:n.404A>T (F12)
NM_000505.3:c.1040A>T , LRG_145t1:c.1040A>T (F12)	NP_000496.2:p.Gln347Leu
XM_011534461.1:c.1040A>T (F12)	XP_011532763.1:p.Gln347Leu
XM_011534462.1:c.704A>T (F12)	XP_011532764.1:p.Gln235Leu
XM_011534462.2:c.704A>T (F12)	XP_011532764.1:p.Gln235Leu
XM_017009773.2:c.1416+6995T>A (SLC34A1)	XP_016865262.1:n.1416+6995T>A
NM_000505.4:c.1040A>T (F12) MANE Select	NP_000496.2:p.Gln347Leu