Canonical Allele Identifier: CA1603608811

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404099G= , CM000667.2:g.177404099G= GRCh38
NC_000005.9:g.176831100G= , CM000667.1:g.176831100G= GRCh37
NC_000005.8:g.176763706G= NCBI36
NG_007568.1:g.10478C= , LRG_145:g.10478C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*685-9C= (F12) ENSP00000512476.1:n.*685-9C=
ENST00000696193.1:c.*1397C= (F12) ENSP00000512477.1:n.*1397C=
ENST00000696194.1:c.*609-9C= (F12) ENSP00000512478.1:n.*609-9C=
ENST00000696195.1:n.3822-9C= (F12)
ENST00000696200.1:n.1122-9C= (F12)
ENST00000696201.1:c.1019-9C= (F12) ENSP00000512482.1:n.1019-9C=
ENST00000253496.4:c.1019-9C= (F12) MANE Select ENSP00000253496.3:n.1019-9C=
ENST00000253496.3:c.1019-9C= (F12) ENSP00000253496.3:n.1019-9C=
ENST00000502598.5:c.-45+573G= (GRK6) ENSP00000422873.1:n.-45+573G=
ENST00000502854.5:n.278-9C= (F12)
ENST00000503736.1:n.391-9C= (F12)
ENST00000510358.5:n.374C= (F12)
NM_000505.3:c.1019-9C= , LRG_145t1:c.1019-9C= (F12) NP_000496.2:n.1019-9C=
XM_011534461.1:c.1019-9C= (F12) XP_011532763.1:n.1019-9C=
XM_011534462.1:c.683-9C= (F12) XP_011532764.1:n.683-9C=
XM_011534462.2:c.683-9C= (F12) XP_011532764.1:n.683-9C=
XM_017009773.2:c.1416+7025G= (SLC34A1) XP_016865262.1:n.1416+7025G=
NM_000505.4:c.1019-9C= (F12) MANE Select NP_000496.2:n.1019-9C=