Canonical Allele Identifier: CA1603609470

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404461C= , CM000667.2:g.177404461C= GRCh38
NC_000005.9:g.176831462C= , CM000667.1:g.176831462C= GRCh37
NC_000005.8:g.176764068C= NCBI36
NG_007568.1:g.10116G= , LRG_145:g.10116G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*466+38G= (F12) ENSP00000512476.1:n.*466+38G=
ENST00000696193.1:c.*1170+38G= (F12) ENSP00000512477.1:n.*1170+38G=
ENST00000696194.1:c.*390+38G= (F12) ENSP00000512478.1:n.*390+38G=
ENST00000696195.1:n.3603+38G= (F12)
ENST00000696200.1:n.903+38G= (F12)
ENST00000696201.1:c.800+38G= (F12) ENSP00000512482.1:n.800+38G=
ENST00000253496.4:c.800+38G= (F12) MANE Select ENSP00000253496.3:n.800+38G=
ENST00000253496.3:c.800+38G= (F12) ENSP00000253496.3:n.800+38G=
ENST00000502598.5:c.-45+935C= (GRK6) ENSP00000422873.1:n.-45+935C=
ENST00000502854.5:n.12G= (F12)
ENST00000503736.1:n.173-48G= (F12)
ENST00000506296.5:c.-141C= (GRK6) ENSP00000421055.1:n.-141C=
ENST00000510358.5:n.12G= (F12)
NM_000505.3:c.800+38G= , LRG_145t1:c.800+38G= (F12) NP_000496.2:n.800+38G=
XM_011534461.1:c.800+38G= (F12) XP_011532763.1:n.800+38G=
XM_011534462.1:c.464+38G= (F12) XP_011532764.1:n.464+38G=
XM_011534462.2:c.464+38G= (F12) XP_011532764.1:n.464+38G=
XM_017009773.2:c.1417-7303C= (SLC34A1) XP_016865262.1:n.1417-7303C=
NM_000505.4:c.800+38G= (F12) MANE Select NP_000496.2:n.800+38G=