Canonical Allele Identifier: CA1603608658

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403938A= , CM000667.2:g.177403938A= GRCh38
NC_000005.9:g.176830939A= , CM000667.1:g.176830939A= GRCh37
NC_000005.8:g.176763545A= NCBI36
NG_007568.1:g.10639T= , LRG_145:g.10639T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*837T= (F12) ENSP00000512476.1:n.*837T=
ENST00000696193.1:c.*1558T= (F12) ENSP00000512477.1:n.*1558T=
ENST00000696194.1:c.*761T= (F12) ENSP00000512478.1:n.*761T=
ENST00000696195.1:n.3974T= (F12)
ENST00000696200.1:n.1274T= (F12)
ENST00000696201.1:c.1171T= (F12) ENSP00000512482.1:p.Tyr391=
ENST00000253496.4:c.1171T= (F12) MANE Select ENSP00000253496.3:p.Tyr391=
ENST00000253496.3:c.1171T= (F12) ENSP00000253496.3:p.Tyr391=
ENST00000502598.5:c.-45+412A= (GRK6) ENSP00000422873.1:n.-45+412A=
ENST00000502854.5:n.430T= (F12)
ENST00000503736.1:n.543T= (F12)
ENST00000510358.5:n.535T= (F12)
NM_000505.3:c.1171T= , LRG_145t1:c.1171T= (F12) NP_000496.2:p.Tyr391=
XM_011534461.1:c.1171T= (F12) XP_011532763.1:p.Tyr391=
XM_011534462.1:c.835T= (F12) XP_011532764.1:p.Tyr279=
XM_011534462.2:c.835T= (F12) XP_011532764.1:p.Tyr279=
XM_017009773.2:c.1416+6864A= (SLC34A1) XP_016865262.1:n.1416+6864A=
NM_000505.4:c.1171T= (F12) MANE Select NP_000496.2:p.Tyr391=