Canonical Allele Identifier: CA362328291

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404237T>A , CM000667.2:g.177404237T>A GRCh38
NC_000005.9:g.176831238T>A , CM000667.1:g.176831238T>A GRCh37
NC_000005.8:g.176763844T>A NCBI36
NG_007568.1:g.10340A>T , LRG_145:g.10340A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*643A>T (F12) ENSP00000512476.1:n.*643A>T
ENST00000696193.1:c.*1347A>T (F12) ENSP00000512477.1:n.*1347A>T
ENST00000696194.1:c.*567A>T (F12) ENSP00000512478.1:n.*567A>T
ENST00000696195.1:n.3780A>T (F12)
ENST00000696200.1:n.1080A>T (F12)
ENST00000696201.1:c.977A>T (F12) ENSP00000512482.1:p.Gln326Leu
ENST00000253496.4:c.977A>T (F12) MANE Select ENSP00000253496.3:p.Gln326Leu
ENST00000253496.3:c.977A>T (F12) ENSP00000253496.3:p.Gln326Leu
ENST00000502598.5:c.-45+711T>A (GRK6) ENSP00000422873.1:n.-45+711T>A
ENST00000502854.5:n.236A>T (F12)
ENST00000503736.1:n.349A>T (F12)
ENST00000510358.5:n.236A>T (F12)
NM_000505.3:c.977A>T , LRG_145t1:c.977A>T (F12) NP_000496.2:p.Gln326Leu
XM_011534461.1:c.977A>T (F12) XP_011532763.1:p.Gln326Leu
XM_011534462.1:c.641A>T (F12) XP_011532764.1:p.Gln214Leu
XM_011534462.2:c.641A>T (F12) XP_011532764.1:p.Gln214Leu
XM_017009773.2:c.1416+7163T>A (SLC34A1) XP_016865262.1:n.1416+7163T>A
NM_000505.4:c.977A>T (F12) MANE Select NP_000496.2:p.Gln326Leu