Canonical Allele Identifier: CA1603609903

Linked Data

dbSNP Id: rs1490766136

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404710T>A , CM000667.2:g.177404710T>A GRCh38
NC_000005.9:g.176831711T>A , CM000667.1:g.176831711T>A GRCh37
NC_000005.8:g.176764317T>A NCBI36
NG_007568.1:g.9867A>T , LRG_145:g.9867A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*301-46A>T (F12) ENSP00000512476.1:n.*301-46A>T
ENST00000696193.1:c.*959A>T (F12) ENSP00000512477.1:n.*959A>T
ENST00000696194.1:c.*225-46A>T (F12) ENSP00000512478.1:n.*225-46A>T
ENST00000696195.1:n.3392A>T (F12)
ENST00000696200.1:n.738-46A>T (F12)
ENST00000696201.1:c.635-46A>T (F12) ENSP00000512482.1:n.635-46A>T
ENST00000253496.4:c.635-46A>T (F12) MANE Select ENSP00000253496.3:n.635-46A>T
ENST00000253496.3:c.635-46A>T (F12) ENSP00000253496.3:n.635-46A>T
ENST00000502598.5:c.-45+1184T>A (GRK6) ENSP00000422873.1:n.-45+1184T>A
ENST00000503736.1:n.172+100A>T (F12)
ENST00000506296.5:c.-45+153T>A (GRK6) ENSP00000421055.1:n.-45+153T>A
NM_000505.3:c.635-46A>T , LRG_145t1:c.635-46A>T (F12) NP_000496.2:n.635-46A>T
XM_011534461.1:c.635-46A>T (F12) XP_011532763.1:n.635-46A>T
XM_011534462.1:c.299-46A>T (F12) XP_011532764.1:n.299-46A>T
XM_011534462.2:c.299-46A>T (F12) XP_011532764.1:n.299-46A>T
XM_017009773.2:c.1417-7054T>A (SLC34A1) XP_016865262.1:n.1417-7054T>A
NM_000505.4:c.635-46A>T (F12) MANE Select NP_000496.2:n.635-46A>T