Canonical Allele Identifier: CA1603608976

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404200C= , CM000667.2:g.177404200C= GRCh38
NC_000005.9:g.176831201C= , CM000667.1:g.176831201C= GRCh37
NC_000005.8:g.176763807C= NCBI36
NG_007568.1:g.10377G= , LRG_145:g.10377G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*680G= (F12) ENSP00000512476.1:n.*680G=
ENST00000696193.1:c.*1384G= (F12) ENSP00000512477.1:n.*1384G=
ENST00000696194.1:c.*604G= (F12) ENSP00000512478.1:n.*604G=
ENST00000696195.1:n.3817G= (F12)
ENST00000696200.1:n.1117G= (F12)
ENST00000696201.1:c.1014G= (F12) ENSP00000512482.1:p.Pro338=
ENST00000253496.4:c.1014G= (F12) MANE Select ENSP00000253496.3:p.Pro338=
ENST00000253496.3:c.1014G= (F12) ENSP00000253496.3:p.Pro338=
ENST00000502598.5:c.-45+674C= (GRK6) ENSP00000422873.1:n.-45+674C=
ENST00000502854.5:n.273G= (F12)
ENST00000503736.1:n.386G= (F12)
ENST00000510358.5:n.273G= (F12)
NM_000505.3:c.1014G= , LRG_145t1:c.1014G= (F12) NP_000496.2:p.Pro338=
XM_011534461.1:c.1014G= (F12) XP_011532763.1:p.Pro338=
XM_011534462.1:c.678G= (F12) XP_011532764.1:p.Pro226=
XM_011534462.2:c.678G= (F12) XP_011532764.1:p.Pro226=
XM_017009773.2:c.1416+7126C= (SLC34A1) XP_016865262.1:n.1416+7126C=
NM_000505.4:c.1014G= (F12) MANE Select NP_000496.2:p.Pro338=