Canonical Allele Identifier: CA1603609458

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404450G= , CM000667.2:g.177404450G= GRCh38
NC_000005.9:g.176831451G= , CM000667.1:g.176831451G= GRCh37
NC_000005.8:g.176764057G= NCBI36
NG_007568.1:g.10127C= , LRG_145:g.10127C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*467-37C= (F12) ENSP00000512476.1:n.*467-37C=
ENST00000696193.1:c.*1171-37C= (F12) ENSP00000512477.1:n.*1171-37C=
ENST00000696194.1:c.*391-37C= (F12) ENSP00000512478.1:n.*391-37C=
ENST00000696195.1:n.3604-37C= (F12)
ENST00000696200.1:n.904-37C= (F12)
ENST00000696201.1:c.801-37C= (F12) ENSP00000512482.1:n.801-37C=
ENST00000253496.4:c.801-37C= (F12) MANE Select ENSP00000253496.3:n.801-37C=
ENST00000253496.3:c.801-37C= (F12) ENSP00000253496.3:n.801-37C=
ENST00000502598.5:c.-45+924G= (GRK6) ENSP00000422873.1:n.-45+924G=
ENST00000502854.5:n.23C= (F12)
ENST00000503736.1:n.173-37C= (F12)
ENST00000506296.5:c.-152G= (GRK6) ENSP00000421055.1:n.-152G=
ENST00000510358.5:n.23C= (F12)
NM_000505.3:c.801-37C= , LRG_145t1:c.801-37C= (F12) NP_000496.2:n.801-37C=
XM_011534461.1:c.801-37C= (F12) XP_011532763.1:n.801-37C=
XM_011534462.1:c.465-37C= (F12) XP_011532764.1:n.465-37C=
XM_011534462.2:c.465-37C= (F12) XP_011532764.1:n.465-37C=
XM_017009773.2:c.1417-7314G= (SLC34A1) XP_016865262.1:n.1417-7314G=
NM_000505.4:c.801-37C= (F12) MANE Select NP_000496.2:n.801-37C=