Canonical Allele Identifier: CA1603608623

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403896A= , CM000667.2:g.177403896A= GRCh38
NC_000005.9:g.176830897A= , CM000667.1:g.176830897A= GRCh37
NC_000005.8:g.176763503A= NCBI36
NG_007568.1:g.10681T= , LRG_145:g.10681T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*879T= (F12) ENSP00000512476.1:n.*879T=
ENST00000696193.1:c.*1600T= (F12) ENSP00000512477.1:n.*1600T=
ENST00000696194.1:c.*803T= (F12) ENSP00000512478.1:n.*803T=
ENST00000696195.1:n.4016T= (F12)
ENST00000696200.1:n.1316T= (F12)
ENST00000696201.1:c.1213T= (F12) ENSP00000512482.1:p.Cys405=
ENST00000253496.4:c.1213T= (F12) MANE Select ENSP00000253496.3:p.Cys405=
ENST00000253496.3:c.1213T= (F12) ENSP00000253496.3:p.Cys405=
ENST00000502598.5:c.-45+370A= (GRK6) ENSP00000422873.1:n.-45+370A=
ENST00000502854.5:n.472T= (F12)
ENST00000503736.1:n.585T= (F12)
ENST00000510358.5:n.577T= (F12)
NM_000505.3:c.1213T= , LRG_145t1:c.1213T= (F12) NP_000496.2:p.Cys405=
XM_011534461.1:c.1213T= (F12) XP_011532763.1:p.Cys405=
XM_011534462.1:c.877T= (F12) XP_011532764.1:p.Cys293=
XM_011534462.2:c.877T= (F12) XP_011532764.1:p.Cys293=
XM_017009773.2:c.1416+6822A= (SLC34A1) XP_016865262.1:n.1416+6822A=
NM_000505.4:c.1213T= (F12) MANE Select NP_000496.2:p.Cys405=