Canonical Allele Identifier: CA1603608607

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403882C= , CM000667.2:g.177403882C= GRCh38
NC_000005.9:g.176830883C= , CM000667.1:g.176830883C= GRCh37
NC_000005.8:g.176763489C= NCBI36
NG_007568.1:g.10695G= , LRG_145:g.10695G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*893G= (F12) ENSP00000512476.1:n.*893G=
ENST00000696193.1:c.*1614G= (F12) ENSP00000512477.1:n.*1614G=
ENST00000696194.1:c.*817G= (F12) ENSP00000512478.1:n.*817G=
ENST00000696195.1:n.4030G= (F12)
ENST00000696200.1:n.1330G= (F12)
ENST00000696201.1:c.1227G= (F12) ENSP00000512482.1:p.Thr409=
ENST00000253496.4:c.1227G= (F12) MANE Select ENSP00000253496.3:p.Thr409=
ENST00000253496.3:c.1227G= (F12) ENSP00000253496.3:p.Thr409=
ENST00000502598.5:c.-45+356C= (GRK6) ENSP00000422873.1:n.-45+356C=
ENST00000502854.5:n.486G= (F12)
ENST00000503736.1:n.599G= (F12)
ENST00000510358.5:n.591G= (F12)
NM_000505.3:c.1227G= , LRG_145t1:c.1227G= (F12) NP_000496.2:p.Thr409=
XM_011534461.1:c.1227G= (F12) XP_011532763.1:p.Thr409=
XM_011534462.1:c.891G= (F12) XP_011532764.1:p.Thr297=
XM_011534462.2:c.891G= (F12) XP_011532764.1:p.Thr297=
XM_017009773.2:c.1416+6808C= (SLC34A1) XP_016865262.1:n.1416+6808C=
NM_000505.4:c.1227G= (F12) MANE Select NP_000496.2:p.Thr409=