Canonical Allele Identifier: CA1603608443

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403637G= , CM000667.2:g.177403637G= GRCh38
NC_000005.9:g.176830638G= , CM000667.1:g.176830638G= GRCh37
NC_000005.8:g.176763244G= NCBI36
NG_007568.1:g.10940C= , LRG_145:g.10940C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*917-20C= (F12) ENSP00000512476.1:n.*917-20C=
ENST00000696193.1:c.*1638-20C= (F12) ENSP00000512477.1:n.*1638-20C=
ENST00000696194.1:c.*841-20C= (F12) ENSP00000512478.1:n.*841-20C=
ENST00000696195.1:n.4054-20C= (F12)
ENST00000696200.1:n.1575C= (F12)
ENST00000696201.1:c.1251-20C= (F12) ENSP00000512482.1:n.1251-20C=
ENST00000253496.4:c.1251-20C= (F12) MANE Select ENSP00000253496.3:n.1251-20C=
ENST00000253496.3:c.1251-20C= (F12) ENSP00000253496.3:n.1251-20C=
ENST00000502598.5:c.-45+111G= (GRK6) ENSP00000422873.1:n.-45+111G=
ENST00000502854.5:n.731C= (F12)
ENST00000503736.1:n.623-20C= (F12)
ENST00000504406.5:n.114C= (F12)
ENST00000510358.5:n.836C= (F12)
NM_000505.3:c.1251-20C= , LRG_145t1:c.1251-20C= (F12) NP_000496.2:n.1251-20C=
XM_011534461.1:c.1251-20C= (F12) XP_011532763.1:n.1251-20C=
XM_011534462.1:c.915-20C= (F12) XP_011532764.1:n.915-20C=
XM_011534462.2:c.915-20C= (F12) XP_011532764.1:n.915-20C=
XM_017009773.2:c.1416+6563G= (SLC34A1) XP_016865262.1:n.1416+6563G=
NM_000505.4:c.1251-20C= (F12) MANE Select NP_000496.2:n.1251-20C=