Canonical Allele Identifier: CA1603609799

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404638G= , CM000667.2:g.177404638G= GRCh38
NC_000005.9:g.176831639G= , CM000667.1:g.176831639G= GRCh37
NC_000005.8:g.176764245G= NCBI36
NG_007568.1:g.9939C= , LRG_145:g.9939C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*327C= (F12) ENSP00000512476.1:n.*327C=
ENST00000696193.1:c.*1031C= (F12) ENSP00000512477.1:n.*1031C=
ENST00000696194.1:c.*251C= (F12) ENSP00000512478.1:n.*251C=
ENST00000696195.1:n.3464C= (F12)
ENST00000696200.1:n.764C= (F12)
ENST00000696201.1:c.661C= (F12) ENSP00000512482.1:p.Arg221=
ENST00000253496.4:c.661C= (F12) MANE Select ENSP00000253496.3:p.Arg221=
ENST00000253496.3:c.661C= (F12) ENSP00000253496.3:p.Arg221=
ENST00000502598.5:c.-45+1112G= (GRK6) ENSP00000422873.1:n.-45+1112G=
ENST00000503736.1:n.172+172C= (F12)
ENST00000506296.5:c.-45+81G= (GRK6) ENSP00000421055.1:n.-45+81G=
NM_000505.3:c.661C= , LRG_145t1:c.661C= (F12) NP_000496.2:p.Arg221=
XM_011534461.1:c.661C= (F12) XP_011532763.1:p.Arg221=
XM_011534462.1:c.325C= (F12) XP_011532764.1:p.Arg109=
XM_011534462.2:c.325C= (F12) XP_011532764.1:p.Arg109=
XM_017009773.2:c.1417-7126G= (SLC34A1) XP_016865262.1:n.1417-7126G=
NM_000505.4:c.661C= (F12) MANE Select NP_000496.2:p.Arg221=