Canonical Allele Identifier: CA1603608818

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404110G= , CM000667.2:g.177404110G= GRCh38
NC_000005.9:g.176831111G= , CM000667.1:g.176831111G= GRCh37
NC_000005.8:g.176763717G= NCBI36
NG_007568.1:g.10467C= , LRG_145:g.10467C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*685-20C= (F12) ENSP00000512476.1:n.*685-20C=
ENST00000696193.1:c.*1389-3C= (F12) ENSP00000512477.1:n.*1389-3C=
ENST00000696194.1:c.*609-20C= (F12) ENSP00000512478.1:n.*609-20C=
ENST00000696195.1:n.3822-20C= (F12)
ENST00000696200.1:n.1122-20C= (F12)
ENST00000696201.1:c.1019-20C= (F12) ENSP00000512482.1:n.1019-20C=
ENST00000253496.4:c.1019-20C= (F12) MANE Select ENSP00000253496.3:n.1019-20C=
ENST00000253496.3:c.1019-20C= (F12) ENSP00000253496.3:n.1019-20C=
ENST00000502598.5:c.-45+584G= (GRK6) ENSP00000422873.1:n.-45+584G=
ENST00000502854.5:n.278-20C= (F12)
ENST00000503736.1:n.391-20C= (F12)
ENST00000510358.5:n.363C= (F12)
NM_000505.3:c.1019-20C= , LRG_145t1:c.1019-20C= (F12) NP_000496.2:n.1019-20C=
XM_011534461.1:c.1019-20C= (F12) XP_011532763.1:n.1019-20C=
XM_011534462.1:c.683-20C= (F12) XP_011532764.1:n.683-20C=
XM_011534462.2:c.683-20C= (F12) XP_011532764.1:n.683-20C=
XM_017009773.2:c.1416+7036G= (SLC34A1) XP_016865262.1:n.1416+7036G=
NM_000505.4:c.1019-20C= (F12) MANE Select NP_000496.2:n.1019-20C=