Canonical Allele Identifier: CA1603608846

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404139G= , CM000667.2:g.177404139G= GRCh38
NC_000005.9:g.176831140G= , CM000667.1:g.176831140G= GRCh37
NC_000005.8:g.176763746G= NCBI36
NG_007568.1:g.10438C= , LRG_145:g.10438C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*685-49C= (F12) ENSP00000512476.1:n.*685-49C=
ENST00000696193.1:c.*1389-32C= (F12) ENSP00000512477.1:n.*1389-32C=
ENST00000696194.1:c.*609-49C= (F12) ENSP00000512478.1:n.*609-49C=
ENST00000696195.1:n.3822-49C= (F12)
ENST00000696200.1:n.1122-49C= (F12)
ENST00000696201.1:c.1019-49C= (F12) ENSP00000512482.1:n.1019-49C=
ENST00000253496.4:c.1019-49C= (F12) MANE Select ENSP00000253496.3:n.1019-49C=
ENST00000253496.3:c.1019-49C= (F12) ENSP00000253496.3:n.1019-49C=
ENST00000502598.5:c.-45+613G= (GRK6) ENSP00000422873.1:n.-45+613G=
ENST00000502854.5:n.278-49C= (F12)
ENST00000503736.1:n.391-49C= (F12)
ENST00000510358.5:n.334C= (F12)
NM_000505.3:c.1019-49C= , LRG_145t1:c.1019-49C= (F12) NP_000496.2:n.1019-49C=
XM_011534461.1:c.1019-49C= (F12) XP_011532763.1:n.1019-49C=
XM_011534462.1:c.683-49C= (F12) XP_011532764.1:n.683-49C=
XM_011534462.2:c.683-49C= (F12) XP_011532764.1:n.683-49C=
XM_017009773.2:c.1416+7065G= (SLC34A1) XP_016865262.1:n.1416+7065G=
NM_000505.4:c.1019-49C= (F12) MANE Select NP_000496.2:n.1019-49C=