Canonical Allele Identifier: CA1603612812

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177406074C= , CM000667.2:g.177406074C= GRCh38
NC_000005.9:g.176833075C= , CM000667.1:g.176833075C= GRCh37
NC_000005.8:g.176765681C= NCBI36
NG_007568.1:g.8503G= , LRG_145:g.8503G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.116-13G= (F12) ENSP00000512476.1:n.116-13G=
ENST00000696193.1:c.*27G= (F12) ENSP00000512477.1:n.*27G=
ENST00000696194.1:c.116-13G= (F12) ENSP00000512478.1:n.116-13G=
ENST00000696195.1:n.2460G= (F12)
ENST00000696200.1:n.219-13G= (F12)
ENST00000696201.1:c.116-13G= (F12) ENSP00000512482.1:n.116-13G=
ENST00000253496.4:c.116-13G= (F12) MANE Select ENSP00000253496.3:n.116-13G=
ENST00000253496.3:c.116-13G= (F12) ENSP00000253496.3:n.116-13G=
ENST00000502598.5:c.-45+2548C= (GRK6) ENSP00000422873.1:n.-45+2548C=
ENST00000506296.5:c.-45+1517C= (GRK6) ENSP00000421055.1:n.-45+1517C=
NM_000505.3:c.116-13G= , LRG_145t1:c.116-13G= (F12) NP_000496.2:n.116-13G=
XM_011534461.1:c.116-13G= (F12) XP_011532763.1:n.116-13G=
XM_017009773.2:c.1417-5690C= (SLC34A1) XP_016865262.1:n.1417-5690C=
NM_000505.4:c.116-13G= (F12) MANE Select NP_000496.2:n.116-13G=