Canonical Allele Identifier: CA1603608572

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403856C= , CM000667.2:g.177403856C= GRCh38
NC_000005.9:g.176830857C= , CM000667.1:g.176830857C= GRCh37
NC_000005.8:g.176763463C= NCBI36
NG_007568.1:g.10721G= , LRG_145:g.10721G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*916+3G= (F12) ENSP00000512476.1:n.*916+3G=
ENST00000696193.1:c.*1637+3G= (F12) ENSP00000512477.1:n.*1637+3G=
ENST00000696194.1:c.*840+3G= (F12) ENSP00000512478.1:n.*840+3G=
ENST00000696195.1:n.4053+3G= (F12)
ENST00000696200.1:n.1356G= (F12)
ENST00000696201.1:c.1250+3G= (F12) ENSP00000512482.1:n.1250+3G=
ENST00000253496.4:c.1250+3G= (F12) MANE Select ENSP00000253496.3:n.1250+3G=
ENST00000253496.3:c.1250+3G= (F12) ENSP00000253496.3:n.1250+3G=
ENST00000502598.5:c.-45+330C= (GRK6) ENSP00000422873.1:n.-45+330C=
ENST00000502854.5:n.512G= (F12)
ENST00000503736.1:n.622+3G= (F12)
ENST00000510358.5:n.617G= (F12)
NM_000505.3:c.1250+3G= , LRG_145t1:c.1250+3G= (F12) NP_000496.2:n.1250+3G=
XM_011534461.1:c.1250+3G= (F12) XP_011532763.1:n.1250+3G=
XM_011534462.1:c.914+3G= (F12) XP_011532764.1:n.914+3G=
XM_011534462.2:c.914+3G= (F12) XP_011532764.1:n.914+3G=
XM_017009773.2:c.1416+6782C= (SLC34A1) XP_016865262.1:n.1416+6782C=
NM_000505.4:c.1250+3G= (F12) MANE Select NP_000496.2:n.1250+3G=