Canonical Allele Identifier: CA1603609503

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404476T= , CM000667.2:g.177404476T= GRCh38
NC_000005.9:g.176831477T= , CM000667.1:g.176831477T= GRCh37
NC_000005.8:g.176764083T= NCBI36
NG_007568.1:g.10101A= , LRG_145:g.10101A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*466+23A= (F12) ENSP00000512476.1:n.*466+23A=
ENST00000696193.1:c.*1170+23A= (F12) ENSP00000512477.1:n.*1170+23A=
ENST00000696194.1:c.*390+23A= (F12) ENSP00000512478.1:n.*390+23A=
ENST00000696195.1:n.3603+23A= (F12)
ENST00000696200.1:n.903+23A= (F12)
ENST00000696201.1:c.800+23A= (F12) ENSP00000512482.1:n.800+23A=
ENST00000253496.4:c.800+23A= (F12) MANE Select ENSP00000253496.3:n.800+23A=
ENST00000253496.3:c.800+23A= (F12) ENSP00000253496.3:n.800+23A=
ENST00000502598.5:c.-45+950T= (GRK6) ENSP00000422873.1:n.-45+950T=
ENST00000503736.1:n.173-63A= (F12)
ENST00000506296.5:c.-126T= (GRK6) ENSP00000421055.1:n.-126T=
NM_000505.3:c.800+23A= , LRG_145t1:c.800+23A= (F12) NP_000496.2:n.800+23A=
XM_011534461.1:c.800+23A= (F12) XP_011532763.1:n.800+23A=
XM_011534462.1:c.464+23A= (F12) XP_011532764.1:n.464+23A=
XM_011534462.2:c.464+23A= (F12) XP_011532764.1:n.464+23A=
XM_017009773.2:c.1417-7288T= (SLC34A1) XP_016865262.1:n.1417-7288T=
NM_000505.4:c.800+23A= (F12) MANE Select NP_000496.2:n.800+23A=