Canonical Allele Identifier: CA1603609399

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404425C= , CM000667.2:g.177404425C= GRCh38
NC_000005.9:g.176831426C= , CM000667.1:g.176831426C= GRCh37
NC_000005.8:g.176764032C= NCBI36
NG_007568.1:g.10152G= , LRG_145:g.10152G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*467-12G= (F12) ENSP00000512476.1:n.*467-12G=
ENST00000696193.1:c.*1171-12G= (F12) ENSP00000512477.1:n.*1171-12G=
ENST00000696194.1:c.*391-12G= (F12) ENSP00000512478.1:n.*391-12G=
ENST00000696195.1:n.3604-12G= (F12)
ENST00000696200.1:n.904-12G= (F12)
ENST00000696201.1:c.801-12G= (F12) ENSP00000512482.1:n.801-12G=
ENST00000253496.4:c.801-12G= (F12) MANE Select ENSP00000253496.3:n.801-12G=
ENST00000253496.3:c.801-12G= (F12) ENSP00000253496.3:n.801-12G=
ENST00000502598.5:c.-45+899C= (GRK6) ENSP00000422873.1:n.-45+899C=
ENST00000502854.5:n.48G= (F12)
ENST00000503736.1:n.173-12G= (F12)
ENST00000506296.5:c.-177C= (GRK6) ENSP00000421055.1:n.-177C=
ENST00000510358.5:n.48G= (F12)
NM_000505.3:c.801-12G= , LRG_145t1:c.801-12G= (F12) NP_000496.2:n.801-12G=
XM_011534461.1:c.801-12G= (F12) XP_011532763.1:n.801-12G=
XM_011534462.1:c.465-12G= (F12) XP_011532764.1:n.465-12G=
XM_011534462.2:c.465-12G= (F12) XP_011532764.1:n.465-12G=
XM_017009773.2:c.1417-7339C= (SLC34A1) XP_016865262.1:n.1417-7339C=
NM_000505.4:c.801-12G= (F12) MANE Select NP_000496.2:n.801-12G=