Canonical Allele Identifier: CA1603609460

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404453C= , CM000667.2:g.177404453C= GRCh38
NC_000005.9:g.176831454C= , CM000667.1:g.176831454C= GRCh37
NC_000005.8:g.176764060C= NCBI36
NG_007568.1:g.10124G= , LRG_145:g.10124G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*467-40G= (F12) ENSP00000512476.1:n.*467-40G=
ENST00000696193.1:c.*1171-40G= (F12) ENSP00000512477.1:n.*1171-40G=
ENST00000696194.1:c.*391-40G= (F12) ENSP00000512478.1:n.*391-40G=
ENST00000696195.1:n.3604-40G= (F12)
ENST00000696200.1:n.904-40G= (F12)
ENST00000696201.1:c.801-40G= (F12) ENSP00000512482.1:n.801-40G=
ENST00000253496.4:c.801-40G= (F12) MANE Select ENSP00000253496.3:n.801-40G=
ENST00000253496.3:c.801-40G= (F12) ENSP00000253496.3:n.801-40G=
ENST00000502598.5:c.-45+927C= (GRK6) ENSP00000422873.1:n.-45+927C=
ENST00000502854.5:n.20G= (F12)
ENST00000503736.1:n.173-40G= (F12)
ENST00000506296.5:c.-149C= (GRK6) ENSP00000421055.1:n.-149C=
ENST00000510358.5:n.20G= (F12)
NM_000505.3:c.801-40G= , LRG_145t1:c.801-40G= (F12) NP_000496.2:n.801-40G=
XM_011534461.1:c.801-40G= (F12) XP_011532763.1:n.801-40G=
XM_011534462.1:c.465-40G= (F12) XP_011532764.1:n.465-40G=
XM_011534462.2:c.465-40G= (F12) XP_011532764.1:n.465-40G=
XM_017009773.2:c.1417-7311C= (SLC34A1) XP_016865262.1:n.1417-7311C=
NM_000505.4:c.801-40G= (F12) MANE Select NP_000496.2:n.801-40G=