Canonical Allele Identifier: CA1603609022

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404231G= , CM000667.2:g.177404231G= GRCh38
NC_000005.9:g.176831232G= , CM000667.1:g.176831232G= GRCh37
NC_000005.8:g.176763838G= NCBI36
NG_007568.1:g.10346C= , LRG_145:g.10346C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696192.1:c.*649C= (F12) ENSP00000512476.1:n.*649C=
ENST00000696193.1:c.*1353C= (F12) ENSP00000512477.1:n.*1353C=
ENST00000696194.1:c.*573C= (F12) ENSP00000512478.1:n.*573C=
ENST00000696195.1:n.3786C= (F12)
ENST00000696200.1:n.1086C= (F12)
ENST00000696201.1:c.983C= (F12) ENSP00000512482.1:p.Thr328=
ENST00000253496.4:c.983C= (F12) MANE Select ENSP00000253496.3:p.Thr328=
ENST00000253496.3:c.983C= (F12) ENSP00000253496.3:p.Thr328=
ENST00000502598.5:c.-45+705G= (GRK6) ENSP00000422873.1:n.-45+705G=
ENST00000502854.5:n.242C= (F12)
ENST00000503736.1:n.355C= (F12)
ENST00000510358.5:n.242C= (F12)
NM_000505.3:c.983C= , LRG_145t1:c.983C= (F12) NP_000496.2:p.Thr328=
XM_011534461.1:c.983C= (F12) XP_011532763.1:p.Thr328=
XM_011534462.1:c.647C= (F12) XP_011532764.1:p.Thr216=
XM_011534462.2:c.647C= (F12) XP_011532764.1:p.Thr216=
XM_017009773.2:c.1416+7157G= (SLC34A1) XP_016865262.1:n.1416+7157G=
NM_000505.4:c.983C= (F12) MANE Select NP_000496.2:p.Thr328=